462 results match your criteria Women's Health and Epilepsy


Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.

Am J Hum Genet 2019 Apr 10. Epub 2019 Apr 10.

Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK; Department of Neurology, Great Ormond Street Hospital, London WC1N 3JH, UK. Electronic address:

The occurrence of non-epileptic hyperkinetic movements in the context of developmental epileptic encephalopathies is an increasingly recognized phenomenon. Identification of causative mutations provides an important insight into common pathogenic mechanisms that cause both seizures and abnormal motor control. We report bi-allelic loss-of-function CACNA1B variants in six children from three unrelated families whose affected members present with a complex and progressive neurological syndrome. Read More

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00029297193010
Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2019.03.005DOI Listing
April 2019
6 Reads

PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics.

Genet Med 2019 Apr 12. Epub 2019 Apr 12.

Danish Epilepsy Centre, Dianalund, Denmark.

Purpose: To provide a detailed electroclinical description and expand the phenotype of PIGT-CDG, to perform genotype-phenotype correlation, and to investigate the onset and severity of the epilepsy associated with the different genetic subtypes of this rare disorder. Furthermore, to use computer-assisted facial gestalt analysis in PIGT-CDG and to the compare findings with other glycosylphosphatidylinositol (GPI) anchor deficiencies.

Methods: We evaluated 13 children from eight unrelated families with homozygous or compound heterozygous pathogenic variants in PIGT. Read More

View Article

Download full-text PDF

Source
http://www.nature.com/articles/s41436-019-0512-3
Publisher Site
http://dx.doi.org/10.1038/s41436-019-0512-3DOI Listing
April 2019
2 Reads

Underutilization of epilepsy surgery in ASEAN countries.

Seizure 2019 Apr 4;69:51-56. Epub 2019 Apr 4.

Division of Neurology, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.

Purpose: This survey was performed to determine the availability of epilepsy surgery, and understand the limiting factors to epilepsy surgery in ASEAN countries with total of 640 million population.

Method: A cross-sectional survey was completed by national representatives in all ASEAN countries (Brunei, Cambodia, East Timor, Indonesia, Laos, Malaysia, Myanmar, Philippines, Singapore, Thailand, and Vietnam).

Results: Overall facilities for initial epilepsy pre-surgical evaluation are available in most countries, but further non-invasive and invasive investigations are limited. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.seizure.2019.04.002DOI Listing

Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy.

J Child Neurol 2019 Apr 9:883073819840449. Epub 2019 Apr 9.

8 Adelaide Medical School & Robinson Research Institute, University of Adelaide, Adelaide, Australia.

High throughput sequencing is discovering many likely causative genetic variants in individuals with cerebral palsy. Some investigators have suggested that this changes the clinical diagnosis of cerebral palsy and that these individuals should be removed from this diagnostic category. Cerebral palsy is a neurodevelopmental disorder diagnosed on clinical signs, not etiology. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/0883073819840449DOI Listing
April 2019
2 Reads

Antiepileptic Drug Management in Hospitalized Epilepsy Patients With Nil Per Os Diets: A Retrospective Review.

Neurohospitalist 2019 Apr 27;9(2):65-70. Epub 2018 Sep 27.

Department of Neurology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.

Background And Purpose: Antiepileptic drug (AED) management in patients with epilepsy who cannot take their usual oral medications is a common neurologic dilemma in the hospital setting. Strategies to maintain seizure control in patients with nil per os (NPO, nothing by mouth) diet orders include continuation of oral AEDs despite NPO nutrition orders, administration of intravenous AED(s), or temporary administration of benzodiazepines. The frequency with which these strategies are used and their effectiveness in preventing in-hospital seizures is unknown. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/1941874418802513DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6429681PMC

MEG Assessment of Expressive Language in Children Evaluated for Epilepsy Surgery.

Brain Topogr 2019 Mar 20. Epub 2019 Mar 20.

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

Establishing language dominance is an important step in the presurgical evaluation of patients with refractory epilepsy. In the absence of a universally accepted gold-standard non-invasive method to determine language dominance in the preoperative assessment, a range of tools and methodologies have recently received attention. When applied to pediatric age, many of the proposed methods, such as functional magnetic resonance imaging (fMRI), may present some challenges due to the time-varying effects of epileptogenic lesions and of on-going seizures on maturational phenomena. Read More

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s10548-019-00703-1
Publisher Site
http://dx.doi.org/10.1007/s10548-019-00703-1DOI Listing
March 2019
9 Reads

Characterization of Plaque-Sized Variants of Daniel's (DA) Strain in Theiler's Virus-Induced Epilepsy.

Sci Rep 2019 Mar 5;9(1):3444. Epub 2019 Mar 5.

Veterinary Integrative Biosciences, College of Veterinary Medicine and Biomedical Sciences, College Station, Texas, USA.

Epilepsy is a complex neurological disease characterized by recurrent seizures. Patients with viral encephalitis have a 16-fold increased risk of developing epilepsy, and this risk can persist for about 15 years after the occurrence of initial viral infection. Theiler's murine encephalomyelitis virus (TMEV) infection induces a well-characterized experimental model of epilepsy in C57BL/6 mice. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41598-019-38967-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6401140PMC
March 2019
3 Reads

Developmental outcomes at age four following maternal antiepileptic drug use.

Epilepsy Behav 2019 Mar 1;93:73-79. Epub 2019 Mar 1.

School of Pharmacy, University of Otago, Dunedin, New Zealand.

We investigated whether prenatal antiepileptic drug (AED) exposure was associated with adverse outcomes in the Before School Check (B4SC) assessments, particularly the assessments measuring neurodevelopment. Children exposed to AEDs were identified by linking women dispensed AEDs in the Pharmaceutical Collection to births recorded on the National Minimum Dataset (NMDS). Multinomial logistic regression was used to estimate adjusted risk ratios (aRRs) and 95% confidence intervals (CIs) for outcomes of the parent-completed Parental Evaluation of Developmental Status (PEDS) questionnaire and Strengths and Difficulties Questionnaire (SDQ), after adjusting for gender, ethnicity, and socioeconomic deprivation. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.yebeh.2019.01.018DOI Listing
March 2019
1 Read

De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome.

Am J Hum Genet 2019 Mar 28;104(3):542-552. Epub 2019 Feb 28.

King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Division of Biological and Environmental Sciences and Engineering (BESE), Thuwal 23955-6900, Saudi Arabia. Electronic address:

Polyglutamine expansions in the transcriptional co-repressor Atrophin-1, encoded by ATN1, cause the neurodegenerative condition dentatorubral-pallidoluysian atrophy (DRPLA) via a proposed novel toxic gain of function. We present detailed phenotypic information on eight unrelated individuals who have de novo missense and insertion variants within a conserved 16-amino-acid "HX repeat" motif of ATN1. Each of the affected individuals has severe cognitive impairment and hypotonia, a recognizable facial gestalt, and variable congenital anomalies. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2019.01.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407605PMC
March 2019
6 Reads
10.931 Impact Factor

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Authors:
Benjamin Cogné Sophie Ehresmann Eliane Beauregard-Lacroix Justine Rousseau Thomas Besnard Thomas Garcia Slavé Petrovski Shiri Avni Kirsty McWalter Patrick R Blackburn Stephan J Sanders Kévin Uguen Jacqueline Harris Julie S Cohen Moira Blyth Anna Lehman Jonathan Berg Mindy H Li Usha Kini Shelagh Joss Charlotte von der Lippe Christopher T Gordon Jennifer B Humberson Laurie Robak Daryl A Scott Vernon R Sutton Cara M Skraban Jennifer J Johnston Annapurna Poduri Magnus Nordenskjöld Vandana Shashi Erica H Gerkes Ernie M H F Bongers Christian Gilissen Yuri A Zarate Malin Kvarnung Kevin P Lally Peggy A Kulch Brina Daniels Andres Hernandez-Garcia Nicholas Stong Julie McGaughran Kyle Retterer Kristian Tveten Jennifer Sullivan Madeleine R Geisheker Asbjorg Stray-Pedersen Jennifer M Tarpinian Eric W Klee Julie C Sapp Jacob Zyskind Øystein L Holla Emma Bedoukian Francesca Filippini Anne Guimier Arnaud Picard Øyvind L Busk Jaya Punetha Rolph Pfundt Anna Lindstrand Ann Nordgren Fayth Kalb Megha Desai Ashley Harmon Ebanks Shalini N Jhangiani Tammie Dewan Zeynep H Coban Akdemir Aida Telegrafi Elaine H Zackai Amber Begtrup Xiaofei Song Annick Toutain Ingrid M Wentzensen Sylvie Odent Dominique Bonneau Xénia Latypova Wallid Deb Sylvia Redon Frédéric Bilan Marine Legendre Caitlin Troyer Kerri Whitlock Oana Caluseriu Marine I Murphree Pavel N Pichurin Katherine Agre Ralitza Gavrilova Tuula Rinne Meredith Park Catherine Shain Erin L Heinzen Rui Xiao Jeanne Amiel Stanislas Lyonnet Bertrand Isidor Leslie G Biesecker Dan Lowenstein Jennifer E Posey Anne-Sophie Denommé-Pichon Claude Férec Xiang-Jiao Yang Jill A Rosenfeld Brigitte Gilbert-Dussardier Séverine Audebert-Bellanger Richard Redon Holly A F Stessman Christoffer Nellaker Yaping Yang James R Lupski David B Goldstein Evan E Eichler Francois Bolduc Stéphane Bézieau Sébastien Küry Philippe M Campeau

Am J Hum Genet 2019 Mar 28;104(3):530-541. Epub 2019 Feb 28.

Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T1J4, Canada. Electronic address:

Acetylation of the lysine residues in histones and other DNA-binding proteins plays a major role in regulation of eukaryotic gene expression. This process is controlled by histone acetyltransferases (HATs/KATs) found in multiprotein complexes that are recruited to chromatin by the scaffolding subunit transformation/transcription domain-associated protein (TRRAP). TRRAP is evolutionarily conserved and is among the top five genes intolerant to missense variation. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2019.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407527PMC
March 2019
8 Reads
10.931 Impact Factor

Volume-Staged CyberKnife Stereotactic Radiosurgery for Treatment of Drug Resistant Epilepsy for a Spetzler-Martin Grade V Arteriovenous Malformation: A Case Report and Review of the Literature.

World Neurosurg 2019 Feb 21. Epub 2019 Feb 21.

Department of Neurosurgery, Dell Medical School, The University of Texas at Austin, 1515 Red River St., Austin, Texas (USA) 78701.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.wneu.2019.01.296DOI Listing
February 2019
1 Read

Risk and predictors of dementia and parkinsonism in idiopathic REM sleep behaviour disorder: a multicentre study.

Brain 2019 Mar;142(3):744-759

Department of Neurology, McGill University, Montreal General Hospital, Montreal, Canada.

Idiopathic REM sleep behaviour disorder (iRBD) is a powerful early sign of Parkinson's disease, dementia with Lewy bodies, and multiple system atrophy. This provides an unprecedented opportunity to directly observe prodromal neurodegenerative states, and potentially intervene with neuroprotective therapy. For future neuroprotective trials, it is essential to accurately estimate phenoconversion rate and identify potential predictors of phenoconversion. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/brain/awz030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6391615PMC
March 2019
3 Reads

The Health Stigma and Discrimination Framework: a global, crosscutting framework to inform research, intervention development, and policy on health-related stigmas.

BMC Med 2019 Feb 15;17(1):31. Epub 2019 Feb 15.

Yale University, New Haven, CT, USA.

Stigma is a well-documented barrier to health seeking behavior, engagement in care and adherence to treatment across a range of health conditions globally. In order to halt the stigmatization process and mitigate the harmful consequences of health-related stigma (i.e. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12916-019-1271-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6376797PMC
February 2019

High prevalence of pituitary hormone deficiency in both unilateral and bilateral optic nerve hypoplasia.

Acta Paediatr 2019 Feb 11. Epub 2019 Feb 11.

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

Aim: This study examined the prevalence of neurological impairment and pituitary hormone deficiency (PHD) in patients with unilateral and bilateral optic nerve hypoplasia (ONH).

Methods: A population-based cross-sectional cohort study of 65 patients (51% female) with ONH was conducted in Stockholm. Of these were 35 bilateral and 30 unilateral. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/apa.14751DOI Listing
February 2019
2 Reads

Prenatal detection of right aortic arch.

Arch Gynecol Obstet 2019 Apr 31;299(4):933-938. Epub 2019 Jan 31.

Department of Gynecology and Obstetrics, Division of Feto-Maternal Medicine, Medical University of Vienna, Waehringer Guertel 18-20, 1090, Vienna, Austria.

Purpose: To examine an unselective population of fetuses with right aortic arch (RAA) and suggest perinatal management. Second, to evaluate the importance and possible implication of fetal MRI in those cases.

Methods: Retrospective study of 36 patients with RAA diagnosed prenatally between 2006 and 2017 in a tertiary referral center. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00404-019-05056-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6435603PMC
April 2019
2 Reads

Living with epilepsy in adolescence-A qualitative study of young people's experiences in Singapore: Peer socialization, autonomy, and self-esteem.

Child Care Health Dev 2019 Mar;45(2):241-250

School for Policy Studies, University of Bristol, Bristol, UK.

Background: Systematic reviews of quantitative research on the effects of childhood epilepsy have established its association with higher levels of psychiatric diagnosis, externalizing and internalizing problems, lower health-related quality of life, social competence, and poorer academic achievements, compared with their peers. However, much less is known about young people's experiences of living with epilepsy and its impact on their development from their own perspectives.

Methods: Semistructured interviews were conducted with 15 young people aged between 13 and 16 years. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/cch.12648DOI Listing
March 2019
1 Read

Sleep disturbances in patients with psychogenic non-epileptic seizures: Is it all subjective? A prospective pilot study of sleep-wake patterns.

Seizure 2019 Feb 17;65:124-128. Epub 2019 Jan 17.

Brigham and Women's Hospital, Department of Neurology, Harvard Medical School, Boston, MA, USA. Electronic address:

Purpose: Patients with psychogenic non-epileptic seizures (PNES) frequently complain of poor sleep, yet there are few and inconsistent data supporting objective sleep disturbances in this population. In this prospective observational study, we aimed to compare objective and subjective sleep-wake patterns in patients with PNES with those with epilepsy.

Methods: Subjects were recruited through the Brigham and Women's Epilepsy Monitoring Unit (EMU) over a 6-month period, and were diagnosed as having PNES or epilepsy by experts using video-electroencephalography (v-EEG). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.seizure.2019.01.016DOI Listing
February 2019
5 Reads

ALG11-CDG syndrome: Expanding the phenotype.

Am J Med Genet A 2019 Mar 24;179(3):498-502. Epub 2019 Jan 24.

Clinical Genetics, Stanford Children's Health, Palo Alto, California.

ALG11-Congenital Disorder of Glycosylation (ALG11-CDG, also known as congenital disorder of glycosylation type Ip) is an inherited inborn error of metabolism due to abnormal protein and lipid glycosylation. We describe two unrelated patients with ALG11-CDG due to novel mutations, review the literature of previously described affected individuals, and further expand the clinical phenotype. Both affected individuals reported here had severe psychomotor disabilities and epilepsy. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61046DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6426632PMC
March 2019
1 Read

Deep phenotyping of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype.

Clin Genet 2019 Apr;95(4):496-506

Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.

Whole-exome sequencing has established IQSEC2 as a neurodevelopmental disability gene. The IQSEC2 variant phenotype includes developmental delay, intellectual disability, epilepsy, hypotonia, autism, developmental regression, microcephaly and stereotypies but is yet to be fully described. Presented here are 14 new patients with IQSEC2 variants. Read More

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/cge.13507
Publisher Site
http://dx.doi.org/10.1111/cge.13507DOI Listing
April 2019
22 Reads

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

Genet Med 2019 Jan 14. Epub 2019 Jan 14.

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

The original version of this Article contained an error in the spelling of the author Siddharth Banka, which was incorrectly given as Siddhart Banka. This has now been corrected in both the PDF and HTML versions of the Article. Read More

View Article

Download full-text PDF

Source
http://www.nature.com/articles/s41436-018-0413-x
Publisher Site
http://dx.doi.org/10.1038/s41436-018-0413-xDOI Listing
January 2019
12 Reads
7.329 Impact Factor

Associations between early term and late/post term infants and development of epilepsy: A cohort study.

PLoS One 2018 31;13(12):e0210181. Epub 2018 Dec 31.

Department of Women's and Children's Health, North Bristol NHS Trust, Bristol, United Kingdom.

Background: While life-long impacts exist for infants born one or two weeks early little evidence exists for those infants born after their due date. However interventions could be used to expedite birth if the risks of continuing the pregnancy are higher than intervening. It is known that the risk of epilepsy in childhood is higher in infants exposed to perinatal compromise and therefore may be useful as a proxy for intrapartum compromise. Read More

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0210181PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6312375PMC
December 2018
2 Reads

Posterior reversible encephalopathy syndrome in children with acute lymphoblastic leukemia: Clinical characteristics, risk factors, course, and outcome of disease.

Pediatr Blood Cancer 2019 May 27;66(5):e27594. Epub 2018 Dec 27.

Department of Women's and Children's Health, Karolinska Institute and Karolinska University Hospital, Stockholm, Sweden.

Background: Posterior reversible encephalopathy syndrome (PRES) is a distinct entity with incompletely known predisposing factors. The aim of this study is to describe the incidence, risk factors, clinical course, and outcome of PRES in childhood acute lymphoblastic leukemia (ALL).

Procedure: Patients aged 1. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pbc.27594DOI Listing
May 2019
1 Read

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

Clin Genet 2019 Feb 18;95(2):310-319. Epub 2018 Dec 18.

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

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/cge.13481
Publisher Site
http://dx.doi.org/10.1111/cge.13481DOI Listing
February 2019
7 Reads
3.931 Impact Factor

encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.

Neurology 2019 Jan 12;92(2):e96-e107. 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, 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, 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, Oldenburg, 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.), Parkville, 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

View Article

Download full-text PDF

Source
http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
Publisher Site
http://dx.doi.org/10.1212/WNL.0000000000006729DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6340340PMC
January 2019
14 Reads

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

Neuroimage Clin 2019 19;21:101604. 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nicl.2018.11.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6412974PMC
November 2018
1 Read

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

Toxicol Appl Pharmacol 2019 Jan 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

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S0041008X183053
Publisher Site
http://dx.doi.org/10.1016/j.taap.2018.12.001DOI Listing
January 2019
17 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

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S22111247183177
Publisher Site
http://dx.doi.org/10.1016/j.celrep.2018.11.029DOI Listing
December 2018
26 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

View Article

Download full-text PDF

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

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

Epilepsia 2018 12 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

View Article

Download full-text PDF

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

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

Epilepsia 2018 12 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

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/epi.14589
Publisher Site
http://dx.doi.org/10.1111/epi.14589DOI Listing
December 2018
17 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

View Article

Download full-text PDF

Source
http://fdslive.oup.com/www.oup.com/pdf/production_in_progres
Publisher Site
http://dx.doi.org/10.1093/brain/awy263DOI Listing
November 2018
44 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 Xing 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 Azita Sadeghpour Erica E Davis Nicholas Katsanis 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

View Article

Download full-text PDF

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

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

Dev Med Child Neurol 2019 02 9;61(2):168-173. 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

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/dmcn.14055
Publisher Site
http://dx.doi.org/10.1111/dmcn.14055DOI Listing
February 2019
3 Reads

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

Fetal Pediatr Pathol 2018 Oct 24;37(5):319-325. 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/15513815.2018.1502381DOI Listing
October 2018
9 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

View Article

Download full-text PDF

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

Impact of social disadvantage on cerebral palsy severity.

Dev Med Child Neurol 2019 May 17;61(5):586-592. 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

View Article

Download full-text PDF

Source
https://onlinelibrary.wiley.com/doi/abs/10.1111/dmcn.14026
Publisher Site
http://dx.doi.org/10.1111/dmcn.14026DOI Listing
May 2019
2 Reads

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

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

5Global Neurosurgery Initiative/Program in Global Surgery and Social Change, Department of Global Health and Social Medicine, Harvard Medical School, Boston, Massachusetts.

OBJECTIVEEpilepsy 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

View Article

Download full-text PDF

Source
http://thejns.org/doi/10.3171/2018.3.JNS171722
Publisher Site
http://dx.doi.org/10.3171/2018.3.JNS171722DOI Listing
September 2018
9 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1017/S0950268818002509DOI Listing
September 2018
9 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

View Article

Download full-text PDF

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

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 01 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

View Article

Download full-text PDF

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

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000006240DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6161546PMC
September 2018
23 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 10 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

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/epi.14549
Publisher Site
http://dx.doi.org/10.1111/epi.14549DOI Listing
October 2018
24 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

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ana.25321
Publisher Site
http://dx.doi.org/10.1002/ana.25321DOI Listing
October 2018
20 Reads

Early Diagnosis and Treatment of Cerebral Palsy in Children with a History of Preterm Birth.

Clin Perinatol 2018 09 2;45(3):409-420. Epub 2018 Jul 2.

Physiotherapy, University of Melbourne, 161 Barry Street, Parkville 3052, Australia; Victorian Infant Brain Studies, Murdoch Children's Research Institute, 50 Flemington Road, Parkville 3052, Australia; Neonatal Services, The Royal Women's Hospitals, Cnr Flemington Road and Grattan Street, Parkville 3052, Australia.

Infants born preterm are at increased risk of cerebral palsy (CP), with the risk increasing with decreasing gestational age. Although preterm children are at increased risk of CP compared with their term-born peers, most preterm children do not have CP and thus, it is important to have a standardized process for detecting those children at high risk of CP early. A combination of clinical history, neuroimaging, and physical examination is recommended to ensure early, accurate diagnosis. Read More

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00955108183137
Publisher Site
http://dx.doi.org/10.1016/j.clp.2018.05.011DOI Listing
September 2018
37 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

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S10591311183043
Publisher Site
http://dx.doi.org/10.1016/j.seizure.2018.08.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6168397PMC
October 2018
8 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nicl.2018.07.026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6095944PMC
January 2019
30 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s40264-018-0709-4DOI Listing
December 2018
18 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.

View Article

Download full-text PDF

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

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000006173DOI Listing
September 2018
24 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

View Article

Download full-text PDF

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