436 results match your criteria Women's Health and Epilepsy


The many faces of peroxisomal disorders: Lessons from a large Arab cohort.

Clin Genet 2018 Nov 22. Epub 2018 Nov 22.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

Defects in the peroxisomes biogenesis and/or function result in peroxisomal disorders. In this study, we describe the largest Arab cohort to date (72 families) of clinically, biochemically and molecularly characterized patients with peroxisomal disorders. At the molecular level, we identified 43 disease-causing variants, half of which are novel. Read More

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http://dx.doi.org/10.1111/cge.13481DOI Listing
November 2018

encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.

Neurology 2018 Dec 12. Epub 2018 Dec 12.

From the Epilepsy Research Centre (D.R.M.V., B.J.S., R.B., M.F.B., S.F.B., M.S.H., I.E.S.), Department of Medicine, University of Melbourne, Austin Health, Australia; Departments of Genetics (D.R.M.V., C.M.A.v.R.-A.) and Neurology (D.R.M.V.), University Medical Center Groningen, University of Groningen, the Netherlands; Pediatric Neurology Unit and Laboratories (D.M., M.M.) and Pediatric Neurology (R.G.), Neurogenetics and Neurobiology Unit and Laboratories, A. Meyer Children's Hospital, University of Florence, Italy; Department of Pediatrics and Pediatric Epilepsy Centre (H.X., W.X.W., Y.J.), Peking University First Hospital, Beijing, China; Department of Pediatrics (C.T.M., H.C.M.), Division of Genetic Medicine, University of Washington, Seattle; Population Health and Immunity Division (M.F.B.), Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia; Department of Medical Biology (M.F.B.), University of Melbourne, Australia; Caulfield (D.W.), Melbourne, Australia; Department of Clinical Genetics (S.M.M.), Academic Medical Centre, Amsterdam, the Netherlands; Department of Clinical Genetics (A.S.B., G.M.S.M., I.M.B.H.v.d.L.), Erasmus University Medical Centre, Rotterdam, the Netherlands; Department of Clinical Genetics (J.M.v.H.), VU University Medical Center, Amsterdam, the Netherlands; Tasmanian Health Service (T.L.W.), Women's and Children's Services, Launceston General Hospital, Tasmania, Australia; TY Nelson Department of Neurology and Neurosurgery (R.I.W.) and Institute of Neuroscience and Muscle Research (R.I.W.), Children's Hospital at Westmead, Sydney, New South Wales, Australia; Department of Neurosciences (S.M.), Lady Cilento Children's Hospital, Brisbane, Australia; Department of Anatomical Pathology (R.M.K.), Austin Hospital, Melbourne, Australia; IRCCS Stella Maris Foundation (F.S., R.G.), Pisa, Italy; Klinikum Oldenburg (G.C.K.), Zentrum für Kinder-und Jugendmedizin, Klinik für Neuropädiatrie u.angeborene Stoffwechselerkrankungen, Germany; Centre of Epilepsy (Y.J.), Beijing Institute for Brain Disorders, China; Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Australia; and Florey Institute of Neurosciences and Mental Health (I.E.S.), Australia.

Objective: To delineate the epileptology, a key part of the phenotypic spectrum, in a large patient cohort.

Methods: Patients were recruited via investigators' practices or social media. We included patients with (likely) pathogenic variants or chromosome 6p21. Read More

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000006729DOI Listing
December 2018
3 Reads

Juvenile myoclonic epilepsy has hyper dynamic functional connectivity in the dorsolateral frontal cortex.

Neuroimage Clin 2018 Nov 19. Epub 2018 Nov 19.

Department of Clinical Science, Intervention, and Technology, Karolinska Institute, Stockholm, Sweden; Department of Medical Radiation Physics and Nuclear Medicine, Karolinska University Hospital, Sweden.

Purpose: Characterize the static and dynamic functional connectivity for subjects with juvenile myoclonic epilepsy (JME) using a quantitative data-driven analysis approach.

Methods: Whole-brain resting-state functional MRI data were acquired on a 3 T whole-body clinical MRI scanner from 18 subjects clinically diagnosed with JME and 25 healthy control subjects. 2-min sliding-window approach was incorporated in the quantitative data-driven data analysis framework to assess both the dynamic and static functional connectivity in the resting brains. Read More

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http://dx.doi.org/10.1016/j.nicl.2018.11.014DOI Listing
November 2018

Metabolome-wide association study of anti-epileptic drug treatment during pregnancy.

Toxicol Appl Pharmacol 2018 Dec 4;363:122-130. Epub 2018 Dec 4.

Clinical Biomarkers Laboratory, Division of Pulmonary, Allergy, and Critical Care Medicine, Emory University School of Medicine, Atlanta, GA, United States. Electronic address:

Pregnant women with epilepsy (PWWE) require continuous anti-epileptic drug (AED) treatment to avoid risk to themselves and fetal risks secondary to maternal seizures, resulting in prolonged AED exposure to the developing embryo and fetus. The objectives of this study were to determine whether high-resolution metabolomics is able to link the metabolite profile of PWWE receiving lamotrigine or levetiracetam for seizure control to associated pharmacodynamic (PD) biological responses. Untargeted metabolomic analysis of plasma obtained from 82 PWWE was completed using high-resolution mass spectrometry. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S0041008X183053
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http://dx.doi.org/10.1016/j.taap.2018.12.001DOI Listing
December 2018
5 Reads

A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration.

Cell Rep 2018 Dec;25(10):2729-2741.e6

Department of Women's and Children's Health, University of Otago, Dunedin, New Zealand. Electronic address:

The mammalian neocortex has undergone remarkable changes through evolution. A consequence of such rapid evolutionary events could be a trade-off that has rendered the brain susceptible to certain neurodevelopmental and neuropsychiatric conditions. We analyzed the exomes of 65 patients with the structural brain malformation periventricular nodular heterotopia (PH). Read More

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https://linkinghub.elsevier.com/retrieve/pii/S22111247183177
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http://dx.doi.org/10.1016/j.celrep.2018.11.029DOI Listing
December 2018
10 Reads

Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: The multifaceted phenotypic spectrum of KCTD7-related disorders.

Eur J Med Genet 2018 Nov 27. Epub 2018 Nov 27.

Division of Child Neurology and Psychiatry, Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy. Electronic address:

Background: Mutations in the KCTD7 gene have been associated with progressive myoclonus epilepsy and, in a single patient, with the so-called "Neuronal Ceroid Lipofuscinosis 14" (characterised by myoclonic seizures, cognitive regression, optic atrophy leading to visual loss, and progressive cortical and cerebellar atrophy).

Clinical Reports: We describe two new patients carrying two novel pathogenic mutations in the KCTD7 gene. Patient 1 (NM_153033. Read More

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http://dx.doi.org/10.1016/j.ejmg.2018.11.025DOI Listing
November 2018
2 Reads

Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter study.

Epilepsia 2018 Dec 19;59(12):2260-2271. Epub 2018 Nov 19.

Neurology Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

Objective: PCDH19-related epilepsy is an epileptic syndrome with infantile onset, characterized by clustered and fever-induced seizures, often associated with intellectual disability (ID) and autistic features. The aim of this study was to analyze a large cohort of patients with PCDH19-related epilepsy and better define the epileptic phenotype, genotype-phenotype correlations, and related outcome-predicting factors.

Methods: We retrospectively collected genetic, clinical, and electroencephalogram (EEG) data of 61 patients with PCDH19-related epilepsy followed at 15 epilepsy centers. Read More

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http://doi.wiley.com/10.1111/epi.14600
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http://dx.doi.org/10.1111/epi.14600DOI Listing
December 2018
11 Reads
4.571 Impact Factor

Cognitive outcomes following epilepsy in infancy: A longitudinal community-based study.

Epilepsia 2018 Dec 5;59(12):2240-2248. Epub 2018 Nov 5.

University College London Great Ormond Street Institute of Child Health, London, UK.

Objective: Onset of epilepsy before 2 years of age is associated with poor cognitive outcome; however, the natural course of the range of epilepsies that occur at this age is unknown. The aim of this prospective community-based study was to investigate the neuropsychological development of infants with newly diagnosed epilepsy longitudinally and to identify the clinical factors that predict long-term impairment.

Methods: Sixty-six infants <24 months of age were enrolled in the baseline phase of this study; 40 were seen again at 1-year follow-up and 40 at 3-year follow-up. Read More

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http://doi.wiley.com/10.1111/epi.14589
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http://dx.doi.org/10.1111/epi.14589DOI Listing
December 2018
5 Reads

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.

Brain 2018 Nov;141(11):3160-3178

EuroEPINOMICS RES Consortium.

Hyperpolarization-activated cyclic nucleotide-gated (HCN) channels control neuronal excitability and their dysfunction has been linked to epileptogenesis but few individuals with neurological disorders related to variants altering HCN channels have been reported so far. In 2014, we described five individuals with epileptic encephalopathy due to de novo HCN1 variants. To delineate HCN1-related disorders and investigate genotype-phenotype correlations further, we assembled a cohort of 33 unpublished patients with novel pathogenic or likely pathogenic variants: 19 probands carrying 14 different de novo mutations and four families with dominantly inherited variants segregating with epilepsy in 14 individuals, but not penetrant in six additional individuals. Read More

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http://fdslive.oup.com/www.oup.com/pdf/production_in_progres
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http://dx.doi.org/10.1093/brain/awy263DOI Listing
November 2018
11 Reads

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Authors:
Katherine L Helbig Robert J Lauerer Jacqueline C Bahr Ivana A Souza Candace T Myers Betül Uysal Niklas Schwarz Maria A Gandini Sun Huang Boris Keren Cyril Mignot Alexandra Afenjar Thierry Billette de Villemeur Delphine Héron Caroline Nava Stéphanie Valence Julien Buratti Christina R Fagerberg Kristina P Soerensen Maria Kibaek Erik-Jan Kamsteeg David A Koolen Boudewijn Gunning H Jurgen Schelhaas Michael C Kruer Jordana Fox Somayeh Bakhtiari Randa Jarrar Sergio Padilla-Lopez Kristin Lindstrom Sheng Chih Jin Xue Zeng Kaya Bilguvar Antigone Papavasileiou Qinghe Xin Changlian Zhu Katja Boysen Filippo Vairo Brendan C Lanpher Eric W Klee Jan-Mendelt Tillema Eric T Payne Margot A Cousin Teresa M Kruisselbrink Myra J Wick Joshua Baker Eric Haan Nicholas Smith Mark A Corbett Alastair H MacLennan Jozef Gecz Saskia Biskup Eva Goldmann Lance H Rodan Elizabeth Kichula Eric Segal Kelly E Jackson Alexander Asamoah David Dimmock Julie McCarrier Lorenzo D Botto Francis Filloux Tatiana Tvrdik Gregory D Cascino Sherry Klingerman Catherine Neumann Raymond Wang Jessie C Jacobsen Melinda A Nolan Russell G Snell Klaus Lehnert Lynette G Sadleir Britt-Marie Anderlid Malin Kvarnung Renzo Guerrini Michael J Friez Michael J Lyons Jennifer Leonhard Gabriel Kringlen Kari Casas Christelle M El Achkar Lacey A Smith Alexander Rotenberg Annapurna Poduri Alba Sanchis-Juan Keren J Carss Julia Rankin Adam Zeman F Lucy Raymond Moira Blyth Bronwyn Kerr Karla Ruiz Jill Urquhart Imelda Hughes Siddharth Banka Ulrike B S Hedrich Ingrid E Scheffer Ingo Helbig Gerald W Zamponi Holger Lerche Heather C Mefford

Am J Hum Genet 2018 Nov 18;103(5):666-678. Epub 2018 Oct 18.

Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA. Electronic address:

Developmental and epileptic encephalopathies (DEEs) are severe neurodevelopmental disorders often beginning in infancy or early childhood that are characterized by intractable seizures, abundant epileptiform activity on EEG, and developmental impairment or regression. CACNA1E is highly expressed in the central nervous system and encodes the α-subunit of the voltage-gated Ca2.3 channel, which conducts high voltage-activated R-type calcium currents that initiate synaptic transmission. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183031
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http://dx.doi.org/10.1016/j.ajhg.2018.09.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6216110PMC
November 2018
8 Reads

Tuberous sclerosis-associated neuropsychiatric disorders: a paediatric cohort study.

Dev Med Child Neurol 2018 Oct 9. Epub 2018 Oct 9.

Department of Women's and Children's Health, University Hospital of Padua, Padua, Italy.

Aim: We aimed to study tuberous sclerosis-associated neuropsychiatric disorders (TAND) in children and adolescents with tuberous sclerosis complex (TSC).

Method: Retrospective and prospective cohort study conducted at a Paediatric Neurology Unit of an Italian Tertiary Care Hospital. Clinical and neuroimaging data were reviewed. Read More

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http://doi.wiley.com/10.1111/dmcn.14055
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http://dx.doi.org/10.1111/dmcn.14055DOI Listing
October 2018
3 Reads

First and Second Trimester Biochemical Markers in Maternal Epilepsy: A Case-Control Study.

Fetal Pediatr Pathol 2018 Sep 24:1-7. Epub 2018 Sep 24.

a Department of Obstetrics and Gynecology, Zekai Tahir Burak Women's Health Research and Education Hospital , Ankara , Turkey.

Background: Our aim is to investigate whether the maternal serum levels of first and second trimester serum analytes are altered in women with epilepsy in pregnancy.

Methods: Maternal serum biochemical markers (estriol, alpha-fetoprotein [AFP], human chorionic gonadotrophin [hCG], free β hCG, pregnancy-associated plasma protein-A) were compared in a series of 122 pregnant women with epilepsy and in a cohort of 122 normal pregnant women. The serum samples were obtained between 11-13 6/7 weeks and 16-18 weeks gestation. Read More

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http://dx.doi.org/10.1080/15513815.2018.1502381DOI Listing
September 2018
2 Reads

A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.

Genet Med 2018 Sep 24. Epub 2018 Sep 24.

Department of Pediatrics, Université de Montréal, Montreal, QC, Canada.

Purpose: Contiguous gene deletions are known to cause several neurodevelopmental syndromes, many of which are caused by recurrent events on chromosome 16. However, chromosomal microarray studies (CMA) still yield copy-number variants (CNVs) of unknown clinical significance. We sought to characterize eight individuals with overlapping 205-kb to 504-kb 16p13. Read More

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http://dx.doi.org/10.1038/s41436-018-0290-3DOI Listing
September 2018
7 Reads
7.330 Impact Factor

Impact of social disadvantage on cerebral palsy severity.

Dev Med Child Neurol 2018 Sep 17. Epub 2018 Sep 17.

Cerebral Palsy Alliance, The University of Sydney, Sydney, NSW, Australia.

Aim: To investigate the impact of socio-economic disadvantage on indicators of cerebral palsy (CP) severity - motor impairment, intellectual disability, and the presence of severe comorbidities - in children with CP in Australia.

Method: Data from the Australian Cerebral Palsy Register were analysed. Socio-economic disadvantage was assessed using maternal age, maternal country of birth, and a measure of neighbourhood socio-economic status (SES) at the time of the child's birth. Read More

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http://dx.doi.org/10.1111/dmcn.14026DOI Listing
September 2018
1 Read

An estimation of global volume of surgically treatable epilepsy based on a systematic review and meta-analysis of epilepsy.

J Neurosurg 2018 Sep 14:1-15. Epub 2018 Sep 14.

Global Neurosurgery Initiative/Program in Global Surgery and Social Change, Department of Global Health and Social Medicine, Harvard Medical School, Boston, Massachusetts.

OBJECTIVE Epilepsy is one of the most common neurological disorders, yet its global surgical burden has yet to be characterized. The authors sought to compile the most current epidemiological data to quantify global prevalence and incidence, and estimate global surgically treatable epilepsy. Understanding regional and global epilepsy trends and potential surgical volume is crucial for future policy efforts and resource allocation. Read More

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http://thejns.org/doi/10.3171/2018.3.JNS171722
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http://dx.doi.org/10.3171/2018.3.JNS171722DOI Listing
September 2018
6 Reads
3.740 Impact Factor

Temporal relationship between occurrences of hand, foot and mouth disease, respiratory virus detection and febrile seizures in children in tropical Singapore: a time-series analysis.

Epidemiol Infect 2018 Sep 13:1-6. Epub 2018 Sep 13.

Saw Swee Hock School of Public Health, National University of Singapore and National University Health System,Singapore,Singapore.

Febrile seizure (FS) in children is a common complication of infections with respiratory viruses and hand, foot and mouth disease (HFMD). We conducted a retrospective ecological time-series analysis to determine the temporal relationship between hospital attendances for FS and HFMD or respiratory virus infections. Epilepsy attendance was used as a control. Read More

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http://dx.doi.org/10.1017/S0950268818002509DOI Listing
September 2018
7 Reads

Inflammation-induced Gro1 triggers senescence in neuronal progenitors: effects of estradiol.

J Neuroinflammation 2018 Sep 11;15(1):260. Epub 2018 Sep 11.

Pituitary Center, Department of Medicine, Cedars-Sinai Medical Center, 8700 Beverly Blvd., Los Angeles, CA, 90048, USA.

Background: Inflammation has been proposed to contribute to the decline in adult hippocampal neurogenesis. Proinflammatory cytokines activate transcription of chemokine growth-regulated oncogene α (Gro1) in human and murine hippocampal neuronal progenitor cells (NPC). The goal of this study was to investigate the effects of Gro1 on hippocampal neurogenesis in the presence of inflammation. Read More

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http://dx.doi.org/10.1186/s12974-018-1298-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6131894PMC
September 2018

First-ever convulsive seizures in children presenting to the emergency department: risk factors for seizure recurrence and diagnosis of epilepsy.

Dev Med Child Neurol 2019 Jan 7;61(1):82-90. Epub 2018 Sep 7.

Emergency Department, Department of Women's and Children's Health, University of Padua, Padua, Italy.

Aim: Aetiologies of first-ever convulsive seizures may be diverse, not all leading to recurrence or epilepsy diagnosis. We aimed to describe the epidemiology of first-ever convulsive seizures in children, investigating risk factors for recurrence and epilepsy diagnosis.

Method: This was a retrospective study of children presenting with a first-ever convulsive seizure to a tertiary-care paediatric emergency department (PED) in Italy, in a 12-month period (2011-2012). Read More

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http://dx.doi.org/10.1111/dmcn.14015DOI Listing
January 2019

Antiepileptic drug clearances during pregnancy and clinical implications for women with epilepsy.

Neurology 2018 Sep 5;91(13):e1228-e1236. Epub 2018 Sep 5.

From Brigham and Women's Hospital (P.E.V., L.Q.C., P.B.P.), Harvard Medical School; Harvard Chan School of Public Health (S.P.), Boston, MA; University of Wisconsin School of Medicine and Public Health (Z.N.S.), Madison; University of Miami Miller School of Medicine (D.J.N.), FL; and Emory University School of Medicine (J.C.R.), Atlanta, GA.

Objective: To characterize the magnitude and time course of pregnancy-related clearance changes for different antiepileptic drugs (AEDs): levetiracetam, oxcarbazepine, topiramate, phenytoin, and valproate. A secondary aim was to determine if a decreased AED serum concentration was associated with increased seizure frequency.

Methods: Women with epilepsy were enrolled preconception or early in pregnancy and prospectively followed throughout pregnancy and the first postpartum year with daily diaries of AED doses, adherence, and seizures. Read More

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http://dx.doi.org/10.1212/WNL.0000000000006240DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6161546PMC
September 2018
9 Reads

Systematic review of the screening, diagnosis, and management of ADHD in children with epilepsy. Consensus paper of the Task Force on Comorbidities of the ILAE Pediatric Commission.

Epilepsia 2018 Oct 3;59(10):1867-1880. Epub 2018 Sep 3.

Division of Paediatric Neurology, Neuroscience Institute, Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, University of Cape Town, Cape Town, South Africa.

Attention-deficit/hyperactivity disorder (ADHD) is a common and challenging comorbidity affecting many children with epilepsy. A working group under the International League Against Epilepsy (ILAE) Pediatric Commission identified key questions on the identification and management of ADHD in children with epilepsy. Systematic reviews of the evidence to support approaches to these questions were collated and graded using criteria from the American Academy of Neurology Practice Parameter. Read More

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http://doi.wiley.com/10.1111/epi.14549
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http://dx.doi.org/10.1111/epi.14549DOI Listing
October 2018
10 Reads

Lamotrigine clearance increases by 5 weeks gestational age: Relationship to estradiol concentrations and gestational age.

Ann Neurol 2018 Oct 11;84(4):556-563. Epub 2018 Oct 11.

Experimental and Clinical Pharmacology, College of Pharmacy, University of Minnesota, Minneapolis, Minnesota.

Objective: To determine how early lamotrigine clearance (LTG-CL/F) increases during early pregnancy in women with epilepsy and to quantify the relationship of LTG-CL/F to estradiol concentrations and gestational week.

Methods: This was a multicenter, observational study of pregnant women with epilepsy on lamotrigine and no interacting concomitant medications, employing frequent blood sampling prior to and early in pregnancy. A population mixed-effects modeling approach was used to describe the relationship between LTG-CL/F and gestational week and between LTG-CL/F and estradiol. Read More

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http://doi.wiley.com/10.1002/ana.25321
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http://dx.doi.org/10.1002/ana.25321DOI Listing
October 2018
9 Reads

The role of cEEG as a predictor of patient outcome and survival in patients with intraparenchymal hemorrhages.

Seizure 2018 Oct 15;61:122-127. Epub 2018 Aug 15.

The Edward B. Bromfield Epilepsy Program, Department of Neurology, Brigham and Women's Hospital/Harvard Medical School, Boston, MA 02115, United States. Electronic address:

Purpose: The objective of this study was to determine if continuous electroencephalography (cEEG) results are associated with functional outcome and survival in critically ill patients with intraparenchymal hemorrhages (IPH).

Methods: Patients diagnosed with IPH were selected using a Critical Care EEG Monitoring Consortium Database at Brigham and Women's Hospital in Boston. Functional Outcome in Patients with Primary Intracerebral Hemorrhage (FUNC) scores and Intracerebral Hemorrhage (ICH) scores were calculated as covariates. Read More

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http://dx.doi.org/10.1016/j.seizure.2018.08.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6168397PMC
October 2018
4 Reads

Enhanced co-registration methods to improve intracranial electrode contact localization.

Neuroimage Clin 2018 1;20:398-406. Epub 2018 Aug 1.

University of California Davis, Department of Biomedical Engineering, Davis, CA 95616, USA. Electronic address:

Background: Electrode contact locations are important when planning tailored brain surgeries to identify pathological tissue targeted for resection and conversely avoid eloquent tissue. Current methods employ trained experts to use neuroimaging scans that are manually co-registered and localize contacts within ~2 mm. Yet, the state of the art is limited by either the expertise needed for each type of intracranial electrode or the inter-modality co-registration which increases error, reducing accuracy. Read More

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http://dx.doi.org/10.1016/j.nicl.2018.07.026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6095944PMC
August 2018
9 Reads

Evaluation of Switching Patterns in FDA's Sentinel System: A New Tool to Assess Generic Drugs.

Drug Saf 2018 12;41(12):1313-1323

Center for Drug Evaluation and Research, US Food and Drug Administration, Silver Spring, MD, USA.

Introduction: Nearly 90% of drugs dispensed in the US are generic products.

Objective: The aim of this study was to develop and implement a tool for analyzing manufacturer-level drug utilization and switching patterns within the US Food and Drug Administration's Sentinel system.

Methods: A descriptive tool was designed to analyze data in the Sentinel common data model and was tested with two case studies-metoprolol extended release (ER) and lamotrigine ER-using claims data from four Sentinel data partners. Read More

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http://dx.doi.org/10.1007/s40264-018-0709-4DOI Listing
December 2018
13 Reads

De novo mutation associated with mitochondrial epilepsy syndrome with fever sensitivity.

Neurol Genet 2018 Aug 2;4(4):e258. Epub 2018 Aug 2.

Harvard Chan School of Public Health (E.L.), Harvard University, Boston, MA; Department of Paediatrics (A.W.), University Hospital Southampton NHS Foundation Trust; Nuffield Department Women's + Reproductive Health (E.D., J.C., J.P.), University of Oxford, The Women's Centre; Department of Neuropathology (M.H.), Oxford University Hospitals NHS Foundation Trust; Oxford Children's Hospital (G.A., S.J.), Oxford University Hospitals NHS Foundation Trust; Wessex Clinical Genetics Service (V.H.), University Hospital Southampton NHS Foundation Trust; and Department of Medical and Molecular Genetics (C.F., I.A.B., M.S.), King's College London School of Basic and Medical Biosciences, London, United Kingdom.

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http://dx.doi.org/10.1212/NXG.0000000000000258DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6089689PMC
August 2018
1 Read

Unintended pregnancy, prenatal care, newborn outcomes, and breastfeeding in women with epilepsy.

Neurology 2018 Sep 10;91(11):e1031-e1039. Epub 2018 Aug 10.

From the Department of Neurology (E.L.J.) and Department of Gynecology and Obstetrics (A.E.B.), Johns Hopkins School of Medicine, Baltimore; Johns Hopkins Bloomberg School of Public Health (A.E.B., A.W.), Baltimore, MD; and Department of Neurology (P.B.P.), Brigham and Women's Hospital, Boston, MA.

Objective: To compare the proportions of unintended pregnancies, prenatal vitamin or folic acid (PNVF) use, adequate prenatal care visits, and breastfeeding among women with epilepsy (WWE) to women without epilepsy (WWoE).

Methods: The Pregnancy Risk Assessment Monitoring System (PRAMS) is an annual survey of randomly sampled postpartum women administered by the Centers for Disease Control and Prevention. We used PRAMS data from 13 states from 2009 to 2014 to compare the primary outcomes in WWE and WWoE, as well as our secondary outcomes of contraception practices, newborn outcomes, and time to recognition of pregnancy. Read More

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http://dx.doi.org/10.1212/WNL.0000000000006173DOI Listing
September 2018
10 Reads

Foamy Virus Vectors Transduce Visceral Organs and Hippocampal Structures following In Vivo Delivery to Neonatal Mice.

Mol Ther Nucleic Acids 2018 Sep 3;12:626-634. Epub 2018 Aug 3.

Gene Transfer Technology Group, EGA Institute for Women's Health, University College London, London WC1E 6HX, UK.

Viral vectors are rapidly being developed for a range of applications in research and gene therapy. Prototype foamy virus (PFV) vectors have been described for gene therapy, although their use has mainly been restricted to ex vivo stem cell modification. Here we report direct in vivo transgene delivery with PFV vectors carrying reporter gene constructs. Read More

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http://dx.doi.org/10.1016/j.omtn.2018.07.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6082918PMC
September 2018
7 Reads

Early use of donepezil against psychosis and cognitive decline in Parkinson's disease: a randomised controlled trial for 2 years.

J Neurol Neurosurg Psychiatry 2018 Dec 3;89(12):1332-1340. Epub 2018 Aug 3.

Health Center, Kyoto University, Kyotoi, Japan.

Objectives: Brain acetylcholine is decreased even in patients with cognitively preserved Parkinson's disease (PD). We investigated whether early and long-term use of donepezil prevents psychosis in non-demented PD patients.

Methods: A double-blinded, placebo-controlled trial was conducted. Read More

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http://dx.doi.org/10.1136/jnnp-2018-318107DOI Listing
December 2018
2 Reads

Everolimus for epilepsy and autism spectrum disorder in tuberous sclerosis complex: EXIST-3 substudy in Japan.

Brain Dev 2019 Jan 27;41(1):1-10. Epub 2018 Jul 27.

Division of Neurology, National Center for Child Health and Development, Tokyo, Japan.

Background: Epilepsy and autism spectrum disorder (ASD) are the common neurological manifestations of tuberous sclerosis complex (TSC). EXIST-3 study has recently demonstrated that everolimus reduces seizures in patients with TSC and refractory epilepsy. Here we report the efficacy and safety of everolimus for treatment-refractory seizures in Japanese patients of EXIST-3, along with the exploratory analysis evaluating the everolimus effect on comorbid ASD symptoms in these patients. Read More

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http://dx.doi.org/10.1016/j.braindev.2018.07.003DOI Listing
January 2019

EPINETLAB: A Software for Seizure-Onset Zone Identification From Intracranial EEG Signal in Epilepsy.

Front Neuroinform 2018 11;12:45. Epub 2018 Jul 11.

School of Life and Health Sciences, Aston Brain Centre, Aston University, Birmingham, United Kingdom.

The pre-operative workup of patients with drug-resistant epilepsy requires in some candidates the identification from intracranial EEG (iEEG) of the seizure-onset zone (SOZ), defined as the area responsible of the generation of the seizure and therefore candidate for resection. High-frequency oscillations (HFOs) contained in the iEEG signal have been proposed as biomarker of the SOZ. Their visual identification is a very onerous process and an automated detection tool could be an extremely valuable aid for clinicians, reducing operator-dependent bias, and computational time. Read More

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http://dx.doi.org/10.3389/fninf.2018.00045DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6050353PMC

Sleep in psychogenic nonepileptic seizures: Time to raise a red flag.

Epilepsy Behav 2018 Sep 19;86:6-8. Epub 2018 Jul 19.

Department of Neurology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, United States of America. Electronic address:

Poor sleep is a frequent complaint in patients with psychogenic nonepileptic seizures (PNES). However, few studies have examined sleep problems in this population. We aimed to compare sleep complaints in patients with PNES with those with epilepsy. Read More

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http://dx.doi.org/10.1016/j.yebeh.2018.07.001DOI Listing
September 2018
4 Reads

Long-term outcomes after group B streptococcus infection: a cohort study.

Arch Dis Child 2018 Jul 17. Epub 2018 Jul 17.

Department of Newborn Care, Royal Hospital for Women, Randwick, New South Wales, Australia.

Objective: To describe the risk of death and hospitalisation until adolescence of children after group B streptococcus (GBS) infection during infancy.

Design: Population-based cohort study.

Setting: New South Wales, Australia. Read More

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http://dx.doi.org/10.1136/archdischild-2017-314642DOI Listing
July 2018
15 Reads
2.900 Impact Factor

Medicinal Cannabis in Pregnancy - Panacea or Noxious Weed?

Authors:
Mike O'Connor

J Law Med 2018 Apr;25(3):634-646

Head of Discipline of Obstetrics and Gynaecology, Western Sydney University.

The use of medicinal cannabis has been the subject of enabling legislation in Australia since 2016. At present the medical profession has not supported its use for anything but a few indications which include paediatric treatment-resistant epilepsy (especially Dravet's syndrome), pain syndromes associated with multiple sclerosis, Parkinson's disease and chemotherapy-induced nausea. However, in the United States where medicinal cannabis has been legalised in 29 States and Washington DC, nausea is an approved indication in many jurisdictions and this has been followed by widespread use for pregnancy-induced nausea and vomiting. Read More

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April 2018
28 Reads

Benign paroxysmal torticollis of infancy does not lead to neurological sequelae.

Dev Med Child Neurol 2018 12 28;60(12):1251-1255. Epub 2018 Jun 28.

Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.

Aim: To elucidate the natural course of benign paroxysmal torticollis, the relationship of this disorder to migraine and other paroxysmal diseases, and to analyse candidate genes.

Method: This was a case series of children with benign paroxysmal torticollis of infancy (BPTI) diagnosed from 1998 to 2005, at Astrid Lindgren Children's Hospital, Stockholm, Sweden. A neurological examination and a formalized motor assessment were performed from 2005 to 2007. Read More

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http://dx.doi.org/10.1111/dmcn.13939DOI Listing
December 2018
14 Reads

The Unfavorable Alliance of Pain and Poor Sleep in Children with Life-Limiting Conditions and Severe Psychomotor Impairment.

Children (Basel) 2018 Jun 21;5(7). Epub 2018 Jun 21.

Paediatric Palliative Care Centre, Children's and Adolescents' Hospital, 45711 Datteln, Germany.

A high prevalence of sleep problems exists in children and adolescents with life-limiting conditions (LLC) and severe psychomotor impairment (SPMI). This study aimed to compare the impacts of various child-related (pain, epilepsy, repositioning, medical care) and environment-related (light, noise, TV/radio, open door) factors on sleep in this vulnerable population. Data were obtained through the “Sleep Questionnaire for Children with Severe Psychomotor Impairment” (SNAKE) by proxy assessment. Read More

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http://dx.doi.org/10.3390/children5070082DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6068563PMC
June 2018
7 Reads

Analysis of shared heritability in common disorders of the brain.

Authors:
Verneri Anttila Brendan Bulik-Sullivan Hilary K Finucane Raymond K Walters Jose Bras Laramie Duncan Valentina Escott-Price Guido J Falcone Padhraig Gormley Rainer Malik Nikolaos A Patsopoulos Stephan Ripke Zhi Wei Dongmei Yu Phil H Lee Patrick Turley Benjamin Grenier-Boley Vincent Chouraki Yoichiro Kamatani Claudine Berr Luc Letenneur Didier Hannequin Philippe Amouyel Anne Boland Jean-François Deleuze Emmanuelle Duron Badri N Vardarajan Christiane Reitz Alison M Goate Matthew J Huentelman M Ilyas Kamboh Eric B Larson Ekaterina Rogaeva Peter St George-Hyslop Hakon Hakonarson Walter A Kukull Lindsay A Farrer Lisa L Barnes Thomas G Beach F Yesim Demirci Elizabeth Head Christine M Hulette Gregory A Jicha John S K Kauwe Jeffrey A Kaye James B Leverenz Allan I Levey Andrew P Lieberman Vernon S Pankratz Wayne W Poon Joseph F Quinn Andrew J Saykin Lon S Schneider Amanda G Smith Joshua A Sonnen Robert A Stern Vivianna M Van Deerlin Linda J Van Eldik Denise Harold Giancarlo Russo David C Rubinsztein Anthony Bayer Magda Tsolaki Petra Proitsi Nick C Fox Harald Hampel Michael J Owen Simon Mead Peter Passmore Kevin Morgan Markus M Nöthen Martin Rossor Michelle K Lupton Per Hoffmann Johannes Kornhuber Brian Lawlor Andrew McQuillin Ammar Al-Chalabi Joshua C Bis Agustin Ruiz Mercè Boada Sudha Seshadri Alexa Beiser Kenneth Rice Sven J van der Lee Philip L De Jager Daniel H Geschwind Matthias Riemenschneider Steffi Riedel-Heller Jerome I Rotter Gerhard Ransmayr Bradley T Hyman Carlos Cruchaga Montserrat Alegret Bendik Winsvold Priit Palta Kai-How Farh Ester Cuenca-Leon Nicholas Furlotte Tobias Kurth Lannie Ligthart Gisela M Terwindt Tobias Freilinger Caroline Ran Scott D Gordon Guntram Borck Hieab H H Adams Terho Lehtimäki Juho Wedenoja Julie E Buring Markus Schürks Maria Hrafnsdottir Jouke-Jan Hottenga Brenda Penninx Ville Artto Mari Kaunisto Salli Vepsäläinen Nicholas G Martin Grant W Montgomery Mitja I Kurki Eija Hämäläinen Hailiang Huang Jie Huang Cynthia Sandor Caleb Webber Bertram Muller-Myhsok Stefan Schreiber Veikko Salomaa Elizabeth Loehrer Hartmut Göbel Alfons Macaya Patricia Pozo-Rosich Thomas Hansen Thomas Werge Jaakko Kaprio Andres Metspalu Christian Kubisch Michel D Ferrari Andrea C Belin Arn M J M van den Maagdenberg John-Anker Zwart Dorret Boomsma Nicholas Eriksson Jes Olesen Daniel I Chasman Dale R Nyholt Andreja Avbersek Larry Baum Samuel Berkovic Jonathan Bradfield Russell Buono Claudia B Catarino Patrick Cossette Peter De Jonghe Chantal Depondt Dennis Dlugos Thomas N Ferraro Jacqueline French Helle Hjalgrim Jennifer Jamnadas-Khoda Reetta Kälviäinen Wolfram S Kunz Holger Lerche Costin Leu Dick Lindhout Warren Lo Daniel Lowenstein Mark McCormack Rikke S Møller Anne Molloy Ping-Wing Ng Karen Oliver Michael Privitera Rodney Radtke Ann-Kathrin Ruppert Thomas Sander Steven Schachter Christoph Schankin Ingrid Scheffer Susanne Schoch Sanjay M Sisodiya Philip Smith Michael Sperling Pasquale Striano Rainer Surges G Neil Thomas Frank Visscher Christopher D Whelan Federico Zara Erin L Heinzen Anthony Marson Felicitas Becker Hans Stroink Fritz Zimprich Thomas Gasser Raphael Gibbs Peter Heutink Maria Martinez Huw R Morris Manu Sharma Mina Ryten Kin Y Mok Sara Pulit Steve Bevan Elizabeth Holliday John Attia Thomas Battey Giorgio Boncoraglio Vincent Thijs Wei-Min Chen Braxton Mitchell Peter Rothwell Pankaj Sharma Cathie Sudlow Astrid Vicente Hugh Markus Christina Kourkoulis Joana Pera Miriam Raffeld Scott Silliman Vesna Boraska Perica Laura M Thornton Laura M Huckins N William Rayner Cathryn M Lewis Monica Gratacos Filip Rybakowski Anna Keski-Rahkonen Anu Raevuori James I Hudson Ted Reichborn-Kjennerud Palmiero Monteleone Andreas Karwautz Katrin Mannik Jessica H Baker Julie K O'Toole Sara E Trace Oliver S P Davis Sietske G Helder Stefan Ehrlich Beate Herpertz-Dahlmann Unna N Danner Annemarie A van Elburg Maurizio Clementi Monica Forzan Elisa Docampo Jolanta Lissowska Joanna Hauser Alfonso Tortorella Mario Maj Fragiskos Gonidakis Konstantinos Tziouvas Hana Papezova Zeynep Yilmaz Gudrun Wagner Sarah Cohen-Woods Stefan Herms Antonio Julià Raquel Rabionet Danielle M Dick Samuli Ripatti Ole A Andreassen Thomas Espeseth Astri J Lundervold Vidar M Steen Dalila Pinto Stephen W Scherer Harald Aschauer Alexandra Schosser Lars Alfredsson Leonid Padyukov Katherine A Halmi James Mitchell Michael Strober Andrew W Bergen Walter Kaye Jin Peng Szatkiewicz Bru Cormand Josep Antoni Ramos-Quiroga Cristina Sánchez-Mora Marta Ribasés Miguel Casas Amaia Hervas Maria Jesús Arranz Jan Haavik Tetyana Zayats Stefan Johansson Nigel Williams Astrid Dempfle Aribert Rothenberger Jonna Kuntsi Robert D Oades Tobias Banaschewski Barbara Franke Jan K Buitelaar Alejandro Arias Vasquez Alysa E Doyle Andreas Reif Klaus-Peter Lesch Christine Freitag Olga Rivero Haukur Palmason Marcel Romanos Kate Langley Marcella Rietschel Stephanie H Witt Soeren Dalsgaard Anders D Børglum Irwin Waldman Beth Wilmot Nikolas Molly Claiton H D Bau Jennifer Crosbie Russell Schachar Sandra K Loo James J McGough Eugenio H Grevet Sarah E Medland Elise Robinson Lauren A Weiss Elena Bacchelli Anthony Bailey Vanessa Bal Agatino Battaglia Catalina Betancur Patrick Bolton Rita Cantor Patrícia Celestino-Soper Geraldine Dawson Silvia De Rubeis Frederico Duque Andrew Green Sabine M Klauck Marion Leboyer Pat Levitt Elena Maestrini Shrikant Mane Daniel Moreno- De-Luca Jeremy Parr Regina Regan Abraham Reichenberg Sven Sandin Jacob Vorstman Thomas Wassink Ellen Wijsman Edwin Cook Susan Santangelo Richard Delorme Bernadette Rogé Tiago Magalhaes Dan Arking Thomas G Schulze Robert C Thompson Jana Strohmaier Keith Matthews Ingrid Melle Derek Morris Douglas Blackwood Andrew McIntosh Sarah E Bergen Martin Schalling Stéphane Jamain Anna Maaser Sascha B Fischer Céline S Reinbold Janice M Fullerton José Guzman-Parra Fermin Mayoral Peter R Schofield Sven Cichon Thomas W Mühleisen Franziska Degenhardt Johannes Schumacher Michael Bauer Philip B Mitchell Elliot S Gershon John Rice James B Potash Peter P Zandi Nick Craddock I Nicol Ferrier Martin Alda Guy A Rouleau Gustavo Turecki Roel Ophoff Carlos Pato Adebayo Anjorin Eli Stahl Markus Leber Piotr M Czerski Cristiana Cruceanu Ian R Jones Danielle Posthuma Till F M Andlauer Andreas J Forstner Fabian Streit Bernhard T Baune Tracy Air Grant Sinnamon Naomi R Wray Donald J MacIntyre David Porteous Georg Homuth Margarita Rivera Jakob Grove Christel M Middeldorp Ian Hickie Michele Pergadia Divya Mehta Johannes H Smit Rick Jansen Eco de Geus Erin Dunn Qingqin S Li Matthias Nauck Robert A Schoevers Aartjan Tf Beekman James A Knowles Alexander Viktorin Paul Arnold Cathy L Barr Gabriel Bedoya-Berrio O Joseph Bienvenu Helena Brentani Christie Burton Beatriz Camarena Carolina Cappi Danielle Cath Maria Cavallini Daniele Cusi Sabrina Darrow Damiaan Denys Eske M Derks Andrea Dietrich Thomas Fernandez Martijn Figee Nelson Freimer Gloria Gerber Marco Grados Erica Greenberg Gregory L Hanna Andreas Hartmann Matthew E Hirschtritt Pieter J Hoekstra Alden Huang Chaim Huyser Cornelia Illmann Michael Jenike Samuel Kuperman Bennett Leventhal Christine Lochner Gholson J Lyon Fabio Macciardi Marcos Madruga-Garrido Irene A Malaty Athanasios Maras Lauren McGrath Eurípedes C Miguel Pablo Mir Gerald Nestadt Humberto Nicolini Michael S Okun Andrew Pakstis Peristera Paschou John Piacentini Christopher Pittenger Kerstin Plessen Vasily Ramensky Eliana M Ramos Victor Reus Margaret A Richter Mark A Riddle Mary M Robertson Veit Roessner Maria Rosário Jack F Samuels Paul Sandor Dan J Stein Fotis Tsetsos Filip Van Nieuwerburgh Sarah Weatherall Jens R Wendland Tomasz Wolanczyk Yulia Worbe Gwyneth Zai Fernando S Goes Nicole McLaughlin Paul S Nestadt Hans-Jorgen Grabe Christel Depienne Anuar Konkashbaev Nuria Lanzagorta Ana Valencia-Duarte Elvira Bramon Nancy Buccola Wiepke Cahn Murray Cairns Siow A Chong David Cohen Benedicto Crespo-Facorro James Crowley Michael Davidson Lynn DeLisi Timothy Dinan Gary Donohoe Elodie Drapeau Jubao Duan Lieuwe Haan David Hougaard Sena Karachanak-Yankova Andrey Khrunin Janis Klovins Vaidutis Kučinskas Jimmy Lee Chee Keong Svetlana Limborska Carmel Loughland Jouko Lönnqvist Brion Maher Manuel Mattheisen Colm McDonald Kieran C Murphy Igor Nenadic Jim van Os Christos Pantelis Michele Pato Tracey Petryshen Digby Quested Panos Roussos Alan R Sanders Ulrich Schall Sibylle G Schwab Kang Sim Hon-Cheong So Elisabeth Stögmann Mythily Subramaniam Draga Toncheva John Waddington James Walters Mark Weiser Wei Cheng Robert Cloninger David Curtis Pablo V Gejman Frans Henskens Morten Mattingsdal Sang-Yun Oh Rodney Scott Bradley Webb Gerome Breen Claire Churchhouse Cynthia M Bulik Mark Daly Martin Dichgans Stephen V Faraone Rita Guerreiro Peter Holmans Kenneth S Kendler Bobby Koeleman Carol A Mathews Alkes Price Jeremiah Scharf Pamela Sklar Julie Williams Nicholas W Wood Chris Cotsapas Aarno Palotie Jordan W Smoller Patrick Sullivan Jonathan Rosand Aiden Corvin Benjamin M Neale Jonathan M Schott Richard Anney Josephine Elia Maria Grigoroiu-Serbanescu Howard J Edenberg Robin Murray

Science 2018 06;360(6395)

Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.

Disorders of the brain can exhibit considerable epidemiological comorbidity and often share symptoms, provoking debate about their etiologic overlap. We quantified the genetic sharing of 25 brain disorders from genome-wide association studies of 265,218 patients and 784,643 control participants and assessed their relationship to 17 phenotypes from 1,191,588 individuals. Psychiatric disorders share common variant risk, whereas neurological disorders appear more distinct from one another and from the psychiatric disorders. Read More

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http://dx.doi.org/10.1126/science.aap8757DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6097237PMC
June 2018
59 Reads
7 Citations
31.480 Impact Factor

Rhinencephalon changes in tuberous sclerosis complex.

Neuroradiology 2018 Jun 17. Epub 2018 Jun 17.

Pediatric Neurology and Neurophysiology Unit, Department of Woman and Child Health, University Hospital of Padova, Padova, PD, Italy.

Purpose: Despite complex olfactory bulb embryogenesis, its development abnormalities in tuberous sclerosis complex (TSC) have been poorly investigated.

Methods: Brain MRIs of 110 TSC patients (mean age 11.5 years; age range 0. Read More

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http://dx.doi.org/10.1007/s00234-018-2045-xDOI Listing
June 2018
6 Reads

Further delineation of Malan syndrome.

Hum Mutat 2018 Sep 25;39(9):1226-1237. Epub 2018 Jun 25.

Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

Malan syndrome is an overgrowth disorder described in a limited number of individuals. We aim to delineate the entity by studying a large group of affected individuals. We gathered data on 45 affected individuals with a molecularly confirmed diagnosis through an international collaboration and compared data to the 35 previously reported individuals. Read More

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http://dx.doi.org/10.1002/humu.23563DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6175110PMC
September 2018
8 Reads

Optimal clinical management of children receiving dietary therapies for epilepsy: Updated recommendations of the International Ketogenic Diet Study Group.

Epilepsia Open 2018 Jun 21;3(2):175-192. Epub 2018 May 21.

Department of Neurology, Child and Adolescent Neurology Mayo Clinic Rochester Minnesota U.S.A.

Ketogenic dietary therapies (KDTs) are established, effective nonpharmacologic treatments for intractable childhood epilepsy. For many years KDTs were implemented differently throughout the world due to lack of consistent protocols. In 2009, an expert consensus guideline for the management of children on KDT was published, focusing on topics of patient selection, pre-KDT counseling and evaluation, diet choice and attributes, implementation, supplementation, follow-up, side events, and KDT discontinuation. Read More

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http://doi.wiley.com/10.1002/epi4.12225
Publisher Site
http://dx.doi.org/10.1002/epi4.12225DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5983110PMC
June 2018
18 Reads

Extracellular signal-regulated kinase 2 has duality in function between neuronal and astrocyte expression following neonatal hypoxic-ischaemic cerebral injury.

J Physiol 2018 Dec 11;596(23):6043-6062. Epub 2018 Jul 11.

UCL Institute for Women's Health, Maternal and Fetal Medicine, Perinatal Brain Repair Group, London, WC1E 6HX, UK.

Key Points: This study identifies phosphorylated extracellular signal-regulated kinase (ERK) to be immediately diminished followed by a rapid if transient increase for up to 4 h following hypoxic-ischaemic insult (HI) in the neonatal mouse. Phosphorylated ERK up-regulation was prevented with systemic injection of the mitogen-activated protein kinase kinase (MEK) inhibitor SL327. Treatment with SL327 both pre- and post-HI gave a strong reduction in the number of dying cells and microgliosis. Read More

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http://doi.wiley.com/10.1113/JP275649
Publisher Site
http://dx.doi.org/10.1113/JP275649DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6265549PMC
December 2018
2 Reads

[Epilepsy and comorbid neurodevelopmental disorders].

Lakartidningen 2018 May 22;115. Epub 2018 May 22.

Karolinska Institutet Department of Clinical Neuroscience - Stockholm, Sweden Karolinska Institutet Department of Clinical Neuroscience - Stockholm, Sweden.

In children and adults with epilepsy, it is important to be aware of and diagnose common comorbidities that may have a large impact on quality of life. Comorbid neurodevelopmental disorders include intellectual disability, autism, and attention deficit hyperactivity disorder (ADHD). Depression and anxiety are common findings, and also the risk of psychosis is increased. Read More

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May 2018
2 Reads

[Classification of seizures and epilepsies].

Lakartidningen 2018 May 21;115. Epub 2018 May 21.

Karolinska Institutet Department of Clinical Neuroscience - Stockholm, Sweden Karolinska Institutet Department of Clinical Neuroscience - Stockholm, Sweden.

In 2017 the International League Against Epilepsy (ILAE) published position papers outlining new classifications of seizures and epilepsies. The aims of the new documents are to encompass advances in the field, provide a conceptual framework for future developments, and facilitate communication. In practice, the terminology is somewhat revised. Read More

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Operative and consultative proportions of neurosurgical disease worldwide: estimation from the surgeon perspective.

J Neurosurg 2018 May 11:1-9. Epub 2018 May 11.

Global Neurosurgery Initiative, Program in Global Surgery and Social Change, Department of Global Health and Social Medicine.

OBJECTIVE The global magnitude of neurosurgical disease is unknown. The authors sought to estimate the surgical and consultative proportion of diseases commonly encountered by neurosurgeons, as well as surgeon case volume and perceived workload. METHODS An electronic survey was sent to 193 neurosurgeons previously identified via a global surgeon mapping initiative. Read More

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http://thejns.org/doi/10.3171/2017.10.JNS17347
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http://dx.doi.org/10.3171/2017.10.JNS17347DOI Listing
May 2018
6 Reads

Seizures in Pregnancy.

Obstet Gynecol Clin North Am 2018 Jun;45(2):349-367

Department of Obstetrics, Gynecology and Women's Health, University of Missouri School of Medicine, 500 North Keene Street, Suite 406, Columbia, MO 65201, USA. Electronic address:

Seizures are among the most serious neurologic complications encountered in pregnancy. This review provides a foundation for the initial diagnosis, evaluation, classification, and management of seizures during pregnancy. Read More

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http://dx.doi.org/10.1016/j.ogc.2018.02.001DOI Listing
June 2018
5 Reads

De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.

PLoS Genet 2018 05 8;14(5):e1007281. Epub 2018 May 8.

Department of Biostatistics and Bioinformatics, Duke University, Durham, North Carolina, United States of America.

Periventricular nodular heterotopia (PVNH) is a malformation of cortical development commonly associated with epilepsy. We exome sequenced 202 individuals with sporadic PVNH to identify novel genetic risk loci. We first performed a trio-based analysis and identified 219 de novo variants. Read More

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http://dx.doi.org/10.1371/journal.pgen.1007281DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5965900PMC
May 2018
17 Reads

AntiEpileptic drug Monitoring in PREgnancy (EMPiRE): a double-blind randomised trial on effectiveness and acceptability of monitoring strategies.

Health Technol Assess 2018 05;22(23):1-152

Women's Health Research Unit, Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.

Background: Pregnant women with epilepsy on antiepileptic drugs (AEDs) may experience a reduction in serum AED levels. This has the potential to worsen seizure control.

Objective: To determine if, in pregnant women with epilepsy on AEDs, additional therapeutic drug monitoring reduces seizure deterioration compared with clinical features monitoring after a reduction in serum AED levels. Read More

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http://dx.doi.org/10.3310/hta22230DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5960819PMC
May 2018
8 Reads

Changes in antiepileptic drug-prescribing patterns in pregnant women with epilepsy.

Epilepsy Behav 2018 Jul 3;84:10-14. Epub 2018 May 3.

The Emmes Corporation, United States.

Objective: We analyzed current prescribing patterns for antiepileptic drugs (AEDs) in pregnant women with epilepsy (PWWE) at 20 USA tertiary epilepsy centers.

Methods: The Maternal Outcomes and Neurodevelopmental Effects of Antiepileptic Drugs (MONEAD) study is an NIH-funded, prospective, observational, multicenter investigation of pregnancy outcomes for both mother and child, which enrolled women from December 2012 to January 2016. Inclusion criteria for PWWE included ages 14-45 years and up to 20 weeks gestational age. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S15255050183030
Publisher Site
http://dx.doi.org/10.1016/j.yebeh.2018.04.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6016834PMC
July 2018
16 Reads

Fertility and Birth Outcomes in Women With Epilepsy Seeking Pregnancy.

JAMA Neurol 2018 Aug;75(8):962-969

Division of Epilepsy, Department of Neurology, Brigham and Women's Hospital, Boston, Massachusetts.

Importance: Prior studies report lower birth rates for women with epilepsy (WWE) but have been unable to differentiate between biological and social contributions. To our knowledge, we do not have data to inform WWE seeking pregnancy if their likelihood of achieving pregnancy is biologically reduced compared with their peers.

Objective: To determine if WWE without a prior diagnosis of infertility or related disorders are as likely to achieve pregnancy within 12 months as their peers without epilepsy. Read More

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http://dx.doi.org/10.1001/jamaneurol.2018.0646DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6142930PMC

Cognition, health-related quality of life, and mood in children and young adults diagnosed with a glioneuronal tumor in childhood.

Epilepsy Behav 2018 Jun 11;83:59-66. Epub 2018 Apr 11.

Department of Women's and Children's Health, Section for Pediatrics, Uppsala University, Sweden; Uppsala University Children's Hospital, Uppsala, Sweden.

Aims: The aim of this study was to investigate long-term cognitive outcome, health-related quality of life (HRQoL), and psychiatric symptoms in children and young adults diagnosed with a glioneuronal tumor in childhood.

Methods: Twenty-eight children and adolescents (0-17.99years) with a minimum postoperative follow-up time of five years were eligible for the study; four persons declined participation. Read More

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http://dx.doi.org/10.1016/j.yebeh.2018.03.026DOI Listing
June 2018
1 Read

Neurodevelopmental comorbidities and seizure control 24 months after a first unprovoked seizure in children.

Epilepsy Res 2018 07 20;143:33-40. Epub 2018 Mar 20.

Neuropediatric Unit, Department of Women's and Children's Health, Karolinska Institutet, 171 76 Stockholm, Sweden; Neuropediatric Department, Astrid Lindgren Children's Hospital, Karolinska University Hospital, Stockholm, Sweden.

Purpose: To follow children with newly diagnosed unprovoked seizures to determine (1) whether the prevalence of neurodevelopmental comorbidities and cerebral palsy (CP) changed after the initial seizure, and (2) the association between studied comorbidities and seizures 13-24 months after seizure onset or initiation of treatment.

Methods: Analyses were based on 750 children (28 days-18 years) with a first unprovoked seizure (index) included in a population-based Incidence Registry in Stockholm between 2001 and 2006. The children were followed for two years and their medical records were examined for a priori defined neurodevelopmental/psychiatric comorbidities and CP and seizure frequency. Read More

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http://dx.doi.org/10.1016/j.eplepsyres.2018.03.015DOI Listing
July 2018
4 Reads