5,163 results match your criteria Psychiatric Disorders Associated With Epilepsy


Repeated ambulance use is associated with chronic diseases - a population-based historic cohort study of patients' symptoms and diagnoses.

Scand J Trauma Resusc Emerg Med 2019 Apr 16;27(1):46. Epub 2019 Apr 16.

Centre for Prehospital and Emergency Research, Department of Clinical Medicine, Aalborg University, Søndre Skovvej 15, 9000, Aalborg, Denmark.

Background: There is a growing demand for emergency medical services (EMS) and patients are repeatedly transported by ambulance services. For many patients, especially those with chronic disease, there may be better ways of delivering care. We examined the symptom at time of emergency call and the hospital diagnosis for those ambulance users who repeatedly received an ambulance. Read More

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http://dx.doi.org/10.1186/s13049-019-0624-4DOI Listing

Neuropsychiatric profile of paediatric hypothalamic hamartoma: systematic review and case series.

Dev Med Child Neurol 2019 Apr 11. Epub 2019 Apr 11.

Department of Psychological Medicine, Great Ormond Street Hospital for Children, London, UK.

Aim: To evaluate neuropsychiatric comorbidities in children and adolescents with hypothalamic hamartoma.

Method: We retrospectively analysed case notes for all individuals with hypothalamic hamartoma referred to Great Ormond Street Hospital, London, between 2000 and 2016. In addition, a systematic review aiming to identify all previous paediatric case series was performed. Read More

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http://dx.doi.org/10.1111/dmcn.14241DOI Listing
April 2019
1 Read

Epilepsy and seizures in young people with 22q11.2 deletion syndrome: Prevalence and links with other neurodevelopmental disorders.

Epilepsia 2019 Apr 11. Epub 2019 Apr 11.

Medical Research Council Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University School of Medicine, Cardiff, UK.

Objective: The true prevalence of epileptic seizures and epilepsy in 22q11.2 deletion syndrome (22q11.2DS) is unknown, because previous studies have relied on historical medical record review. Read More

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http://dx.doi.org/10.1111/epi.14722DOI Listing
April 2019
1 Read

The spectrum of intermediate SCN8A-related epilepsy.

Epilepsia 2019 Apr 10. Epub 2019 Apr 10.

Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Center Filadelfia, Dianalund, Denmark.

Objective: Pathogenic variants in SCN8A have been associated with a wide spectrum of epilepsy phenotypes, ranging from benign familial infantile seizures (BFIS) to epileptic encephalopathies with variable severity. Furthermore, a few patients with intellectual disability (ID) or movement disorders without epilepsy have been reported. The vast majority of the published SCN8A patients suffer from severe developmental and epileptic encephalopathy (DEE). Read More

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http://dx.doi.org/10.1111/epi.14705DOI Listing
April 2019
4 Reads

haploinsufficient mice display a spectrum of phenotypes affecting anxiety, sociability, memory flexibility and ampakine CX516 rescues their hyperactivity.

Mol Autism 2019 28;10:15. Epub 2019 Mar 28.

1Laboratory for Neurogenetics, RIKEN Center for Brain Science, Wako, Saitama 351-0198 Japan.

Background: Mutations of the gene encoding a voltage-gated sodium channel alpha-II subunit Nav1.2 are associated with neurological disorders such as epilepsy, autism spectrum disorders, intellectual disability, and schizophrenia. However, causal relationships and pathogenic mechanisms underlying these neurological defects, especially social and psychiatric features, remain to be elucidated. Read More

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http://dx.doi.org/10.1186/s13229-019-0265-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6437867PMC
March 2019
1 Read

Levels of anger in epilepsy patients treated with eslicarbazepine acetate.

Acta Neurol Scand 2019 Apr 6. Epub 2019 Apr 6.

Epilepsy Unit. Neurology Department. Vall d'Hebron Hospital. Passeig Vall d'Hebron, 119-129. 08035, Barcelona. Spain.

Introduction: Aggressive behavior is commonly associated with epilepsy and, can be influenced by the antiepileptic drugs (AEDs) taken. Sodium channel blockers, specifically the carboxamides derivatives carbamazepine and oxcarbazepine, are some of the AEDs considered to have a favorable psychiatric effect profile.

Objectives: We aimed to assess whether the carboxamide analogue eslicarbazepine acetate (ESL) has any effect on the levels of anger in patients with epilepsy. Read More

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http://dx.doi.org/10.1111/ane.13099DOI Listing
April 2019
1 Read

Alteration of GABAergic signaling is associated with anxiety-like behavior in temporal lobe epilepsy mice.

Prog Neuropsychopharmacol Biol Psychiatry 2019 Apr 2;93:141-148. Epub 2019 Apr 2.

Department of Pathology, Medical School of Southeast University, Nanjing, China.

Temporal lobe epilepsy (TLE), which is one of the most common neurological diseases, is accompanied by a high incidence of psychiatric disorders. Among these psychiatric disorders, anxiety is one of the major psychiatric comorbidities in epilepsy patients. However, anxiety in epilepsy patients often remains unrecognized and untreated. Read More

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http://dx.doi.org/10.1016/j.pnpbp.2019.03.020DOI Listing
April 2019
2 Reads

Effect of disease-associated SLC9A9 mutations on protein-protein interaction networks: implications for molecular mechanisms for ADHD and autism.

Atten Defic Hyperact Disord 2019 Mar 29;11(1):91-105. Epub 2019 Mar 29.

Departments of Psychiatry, SUNY Upstate Medical University, 750 East Adams St., Syracuse, NY, 13210, USA.

Na/H Exchanger 9 (NHE9) is an endosomal membrane protein encoded by the Solute Carrier 9A, member 9 gene (SLC9A9). SLC9A9 has been implicated in attention deficit hyperactivity disorder (ADHD), autism spectrum disorders (ASDs), epilepsy, multiple sclerosis and cancers. To better understand the function of NHE9 and the effects of disease-associated variants on protein-protein interactions, we conducted a quantitative analysis of the NHE9 interactome using co-immunoprecipitation and isobaric labeling-based quantitative mass spectrometry. Read More

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http://dx.doi.org/10.1007/s12402-018-0281-xDOI Listing
March 2019
2 Reads

Associations between self-harm and chronic disease among adolescents: Cohort study using statewide emergency department data.

J Adolesc 2019 Apr 20;72:132-140. Epub 2019 Mar 20.

Department of Public Health, School of Social Sciences, Humanities, and Arts, University of California, Merced, Merced CA 95343, USA. Electronic address:

Introduction: We sought to understand the association between youthful self-harm and subsequent chronic disease-related healthcare utilization and whether self-harm reflects unique vulnerability in comparison with severe psychiatric disorders.

Methods: We used a retrospective matched cohort design with statewide, all-payer, individually linked emergency department (ED) data from California, USA. Risk of future ED visits for common chronic conditions in adolescence (headaches, asthma, epilepsy, diabetes, and gastrointestinal disorders, assessed using ICD-9 diagnoses) were compared between three adolescent study groups presenting to an ED in 2010: self-harm patients (n = 5,484), patients with psychiatric complaints but no self-harm (n = 14,235), and patients with other complaints (n = 16,452). Read More

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http://dx.doi.org/10.1016/j.adolescence.2019.03.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6443424PMC

Alterations in GABA-Receptor Trafficking and Synaptic Dysfunction in Brain Disorders.

Front Cell Neurosci 2019 7;13:77. Epub 2019 Mar 7.

CNC-Center for Neuroscience and Cell Biology, University of Coimbra, Coimbra, Portugal.

GABA receptors (GABAR) are the major players in fast inhibitory neurotransmission in the central nervous system (CNS). Regulation of GABAR trafficking and the control of their surface expression play important roles in the modulation of the strength of synaptic inhibition. Different pieces of evidence show that alterations in the surface distribution of GABAR and dysregulation of their turnover impair the activity of inhibitory synapses. Read More

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http://dx.doi.org/10.3389/fncel.2019.00077DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6416223PMC

Neuroimaging and connectomics of drug-resistant epilepsy at multiple scales: From focal lesions to macroscale networks.

Epilepsia 2019 Apr 19;60(4):593-604. Epub 2019 Mar 19.

Multimodal Imaging and Connectome Analysis Lab, McConnell Brain Imaging Centre, Montreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, Canada.

Epilepsy is among the most common chronic neurologic disorders, with 30%-40% of patients having seizures despite antiepileptic drug treatment. The advent of brain imaging and network analyses has greatly improved the understanding of this condition. In particular, developments in magnetic resonance imaging (MRI) have provided measures for the noninvasive characterization and detection of lesions causing epilepsy. Read More

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http://dx.doi.org/10.1111/epi.14688DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6447443PMC
April 2019
1 Read

KCC2 membrane diffusion tunes neuronal chloride homeostasis.

Neuropharmacology 2019 Mar 11. Epub 2019 Mar 11.

INSERM UMR-S 1270, 75005, Paris, France; Sorbonne Université, 75005, Paris, France; Institut du Fer à Moulin, 75005, Paris, France. Electronic address:

Neuronal Cl homeostasis is regulated by the activity of two cation chloride co-transporters (CCCs), the K-Cl cotransporter KCC2 and the Na-K-Cl cotransporter NKCC1, which are primarily extruding and importing chloride in neurons, respectively. Several neurological and psychiatric disorders including epilepsy, neuropathic pain, schizophrenia and autism are associated with altered neuronal chloride (Cl) homeostasis. A current view is that the accumulation of intracellular Cl in neurons as a result of KCC2 down-regulation and/or NKCC1 up-regulation may weaken inhibitory GABA signaling and thereby promote the development of pathological activities. Read More

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http://dx.doi.org/10.1016/j.neuropharm.2019.03.014DOI Listing
March 2019
1 Read

Diagnostic implications of genetic copy number variation in epilepsy plus.

Epilepsia 2019 Apr 13;60(4):689-706. Epub 2019 Mar 13.

Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy.

Objective: Copy number variations (CNVs) represent a significant genetic risk for several neurodevelopmental disorders including epilepsy. As knowledge increases, reanalysis of existing data is essential. Reliable estimates of the contribution of CNVs to epilepsies from sizeable populations are not available. Read More

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http://dx.doi.org/10.1111/epi.14683DOI Listing
April 2019
10 Reads

Role of DNA Methylation and Adenosine in Ketogenic Diet for Pharmacoresistant Epilepsy: Focus on Epileptogenesis and Associated Comorbidities.

Front Neurol 2019 26;10:119. Epub 2019 Feb 26.

Beijing Key Laboratory of Epilepsy Research, Department of Neurology, Beijing Institute for Brain Disorders, Sanbo Brain Hospital, Capital Medical University, Beijing, China.

Epilepsy is a neurological disorder characterized by a long term propensity to produce unprovoked seizures and by the associated comorbidities including neurological, cognitive, psychiatric, and impairment the quality of life. Despite the clinic availability of several novel antiepileptic drugs (AEDs) with different mechanisms of action, more than one-third of patients with epilepsy suffer with pharmacoresistant epilepsy. Until now, no AEDs have been proven to confer the efficacy in alteration of disease progression or inhibition of the development of epilepsy. Read More

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http://dx.doi.org/10.3389/fneur.2019.00119DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6399128PMC
February 2019
2 Reads

Concomitant Psychiatric Symptoms in Neurological Outpatients.

Int J Environ Res Public Health 2019 Mar 9;16(5). Epub 2019 Mar 9.

Department of Neurology, Kangdong Sacred Heart Hospital, College of Medicine, Hallym University, Seoul 05355, Korea.

To estimate the prevalence of concomitant psychiatric disorders in neurological outpatients and to assess the value of simple screening questionnaires in the identification of psychiatric symptoms, we analyzed a total of 803 patients who visited neurology clinics with neurological symptoms over a six-month period. Using self-reported questionnaires, we assessed psychiatric symptoms, such as stress (Perceived Stress Scale, PSS), depression (Patient Health Question 9, PHQ9), and anxiety (Generalized Anxiety Disorder 7, GAD7). According to the disease subtypes, we analyzed the psychiatric scales based on gender and age group. Read More

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http://dx.doi.org/10.3390/ijerph16050860DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6427503PMC
March 2019
1 Read

Seizures, Nonepileptic Events, Trauma, Anxiety, or All of the Above.

Authors:
Jay Salpekar

Epilepsy Curr 2019 Jan 30;19(1):29-30. Epub 2019 Jan 30.

Psychiatric Comorbidity and Traumatic Brain Injury Attribution in Patients With Psychogenic Nonepileptic or Epileptic Seizures: A Multicenter Study of US Veterans Salinsky M, Rutecki P, Parko K, Goy E, Storzbach D, O'Neil M, Binder L, Joos S. Epilepsia. 2018. Read More

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http://dx.doi.org/10.1177/1535759718822842DOI Listing
January 2019
3 Reads

Precocious and Early Central Puberty in Children With Pre-existing Medical Conditions: A Single Center Study.

Front Pediatr 2019 14;7:35. Epub 2019 Feb 14.

Fondation Ophtalmologique Adolphe de Rothschild and Université Paris Descartes, Paris, France.

Precocious and early puberty are reported findings in children with pre-existing medical conditions including certain syndromes. Series pertaining to such situations are limited. A retrospective, single-center study was conducted on children with central precocious puberty (onset before the age of 8 years in girls and 9 years in boys) or early puberty (onset between 8 and 9 years in girls and between 9 and 10. Read More

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http://dx.doi.org/10.3389/fped.2019.00035DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6383411PMC
February 2019
2 Reads

Severe, persistent neurotoxicity after transplant-associated thrombotic microangiopathy in a pediatric patient despite treatment with eculizumab.

Pediatr Transplant 2019 Mar 3:e13381. Epub 2019 Mar 3.

Dana Farber/Boston Children's Cancer and Blood Disorders Center, Boston, Massachusetts.

Background: TA-TMA is a described complication of aHCT in children with neuroblastoma. Outcomes are poor with mortality rates approaching 60%. Described late effects in survivors include chronic kidney disease and persistent pulmonary hypertension. Read More

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http://dx.doi.org/10.1111/petr.13381DOI Listing
March 2019
7 Reads

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

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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

Cannabis use is both independently associated with and mediates worse psychosocial health in patients with epilepsy.

J Neurol Neurosurg Psychiatry 2019 Mar 2. Epub 2019 Mar 2.

Clinical Neurosciences, University of Calgary Cumming School of Medicine, Calgary, Alberta, Canada

Objective: To examine whether cannabis use is associated with or mediates psychosocial health in people with epilepsy.

Methods: Consecutive adult epilepsy patients visiting the Calgary Comprehensive Epilepsy Programme clinic were administered validated patient-reported outcome measures (PROMs) including the Neurological Disorders Depression Inventory for Epilepsy (NDDI-E), Quality of Life in Epilepsy (QOLIE-10-P), EuroQOL five dimensions five level scale (EQ-5D-5L), Global Assessment of Severity of Epilepsy Scale, Global Assessment of Disability Associated with Seizures Scale and the Treatment Satisfaction Questionnaire for Medication scale. We used multiple regression analyses to investigate associations between cannabis use and PROMs. Read More

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http://dx.doi.org/10.1136/jnnp-2018-319780DOI Listing
March 2019
1 Read

Apathy in Parkinson's disease with REM sleep behavior disorder.

J Neurol Sci 2019 Apr 20;399:194-198. Epub 2019 Feb 20.

Sleep-Wake-Epilepsy Center, Department of Neurology, University Hospital (Inselspital) and University of Bern, Bern, Switzerland.

Objectives: Rapid eye movement (REM) sleep behavior disorder (RBD) in patients with Parkinson's disease (PD) is associated with increased risk of non-motor symptoms. However, the association between RBD and apathy in PD remains unclear.

Aims: To compare the prevalence and severity of apathy symptoms in PD patients with RBD (PD-RBD+) and without (PD-RBD-). Read More

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http://dx.doi.org/10.1016/j.jns.2019.02.028DOI Listing
April 2019
1 Read

Family History of Mental and Neurological Disorders and Risk of Autism.

JAMA Netw Open 2019 Mar 1;2(3):e190154. Epub 2019 Mar 1.

Drexel University School of Public Health, Philadelphia, Pennsylvania.

Importance: Familial aggregation of mental and neurological disorders is often observed in autism spectrum disorders (ASD), but reports have generally focused on single disorders and are limited to first-degree relatives.

Objectives: To examine family history of mental and neurological disorders among first- to fourth-degree relatives and risk of ASD with and without intellectual disability (ID) in index persons.

Design, Setting, And Participants: In this population-based cohort study, 567 436 index persons were identified from the Stockholm Youth Cohort, an ongoing longitudinal register-linkage cohort study of the total population aged 0 to 17 years residing in Stockholm County, Sweden. Read More

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http://dx.doi.org/10.1001/jamanetworkopen.2019.0154DOI Listing
March 2019
3 Reads

Vagus Nerve Stimulation (VNS) in Super Refractory New Onset Refractory Status Epilepticus (NORSE).

Case Rep Neurol Med 2019 21;2019:7852017. Epub 2019 Jan 21.

Department of Neurocritical Care, Inova Fairfax Hospital, Falls Church, VA, USA.

The treatment protocol of status epilepticus has many associated toxicities so there is interest in alternate nonmedicinal therapies for managing New Onset Refractory Status Epilepticus (NORSE) patients. Vagus nerve stimulation (VNS) is an FDA-approved therapy for refractory epilepsy that has been shown to decrease the frequency and severity of seizures. We present the case of a patient with new-onset refractory status epilepticus (NORSE) whose seizures were successfully treated with vagus nerve stimulation. Read More

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http://dx.doi.org/10.1155/2019/7852017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6360559PMC
January 2019
3 Reads

Mortality and cause of death of Australians on the autism spectrum.

Autism Res 2019 Feb 25. Epub 2019 Feb 25.

Department of Developmental Disability Neuropsychiatry, UNSW Sydney, New South Wales, Australia.

Focused investigations regarding mortality rates, risk factors, and cause of death in autistic populations remain scarce. The present study used large linked datasets spanning 2001-2015 to report the rates and risk factors for mortality and cause of death in individuals on the autism spectrum (n = 35,929 age range 5-64) with and without concurrent intellectual disability (ID) in New South Wales, Australia. Mortality rates for those on the autism spectrum were 2. Read More

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http://dx.doi.org/10.1002/aur.2086DOI Listing
February 2019
1 Read

The impact of pathological high-frequency oscillations on hippocampal network activity in rats with chronic epilepsy.

Elife 2019 Feb 22;8. Epub 2019 Feb 22.

Neurobiology Section and Center for Neural Circuits and Behavior, Division of Biological Sciences, University of California, San Diego, La Jolla, United States.

In epilepsy, brain networks generate pathological high-frequency oscillations (pHFOs) during interictal periods. To understand how pHFOs differ from normal oscillations in overlapping frequency bands and potentially perturb hippocampal processing, we performed high-density single unit and local field potential recordings from hippocampi of behaving rats with and without chronic epilepsy. In epileptic animals, we observed two types of co-occurring fast oscillations, which by comparison to control animals we could classify as 'ripple-like' or 'pHFO'. Read More

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http://dx.doi.org/10.7554/eLife.42148DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6386518PMC
February 2019

Are psychogenic nonepileptic seizures risk factors for a worse outcome in patients with refractory mesial temporal epilepsy submitted to surgery? Results of a retrospective cohort study.

Epilepsy Behav 2019 Feb 16;93:12-15. Epub 2019 Feb 16.

Department of Psychiatry and Medical Psychology, Faculdade de Medicina de São José do Rio Preto (FAMERP), Brazil. Electronic address:

Objective: The objective of this study was to verify if the presence of psychogenic nonepileptic seizures (PNES) could be a risk factor precluding corticoamygdalohippocampectomy (CAH) in patients with refractory temporal lobe epilepsy (TLE) and mesial temporal sclerosis (MTS) (TLE-MTS).

Methods: This retrospective cohort study analyzed medical data of patients with refractory TLE-MTS accompanied in a Brazilian epilepsy surgery center. Presurgical psychiatric evaluations were performed using the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) criteria. Read More

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http://dx.doi.org/10.1016/j.yebeh.2019.01.036DOI Listing
February 2019
1 Read

[Oxidative stress in epilepsy].

Zh Nevrol Psikhiatr Im S S Korsakova 2019;119(1):97-101

City Clinical Hospital #13, Moscow, Russia.

This article contains an analysis of clinical and experimental studies in which oxidative stress is considered as a possible mechanism in the pathogenesis of epilepsy. Oxidative stress occurs as a result of brain damage after epileptic seizures and may later cause epileptogenesis. Patients with epilepsy showed a high level of lipid peroxidation markers, while the activity of antioxidant defense system was low. Read More

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http://dx.doi.org/10.17116/jnevro201911901197DOI Listing
January 2019
2 Reads

Natural history of patients with psychogenic nonepileptic seizures.

Seizure 2019 Mar 11;66:22-25. Epub 2019 Feb 11.

Neuroscience Research Center, Shiraz Medical School, Shiraz University of Medical Sciences, Shiraz, Iran. Electronic address:

Purpose: The purpose of this study was to investigate the long-term outcome of patients with psychogenic nonepileptic seizures (PNES), who never visited a psychologist and never received a proper therapy for their condition (due to lack of resources). We also aimed to investigate factors potentially associated with the outcome in these patients.

Methods: We studied all patients with PNES, who were admitted to the epilepsy monitoring unit at the Shiraz Comprehensive Epilepsy Center, from 2008 until 2013. Read More

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http://dx.doi.org/10.1016/j.seizure.2019.02.006DOI Listing
March 2019
2 Reads

A scoping review of health-related stigma outcomes for high-burden diseases in low- and middle-income countries.

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

Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, 615 N. Wolfe Street, Baltimore, MD, 21205, USA.

Background: Stigma is associated with health conditions that drive disease burden in low- and middle-income countries (LMICs), including HIV, tuberculosis, mental health problems, epilepsy, and substance use disorders. However, the literature discussing the relationship between stigma and health outcomes is largely fragmented within disease-specific siloes, thus limiting the identification of common moderators or mechanisms through which stigma potentiates adverse health outcomes as well as the development of broadly relevant stigma mitigation interventions.

Methods: We conducted a scoping review to provide a critical overview of the breadth of research on stigma for each of the five aforementioned conditions in LMICs, including their methodological strengths and limitations. Read More

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http://dx.doi.org/10.1186/s12916-019-1250-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6376728PMC
February 2019
1 Read
7.249 Impact Factor

Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish.

Nat Commun 2019 02 12;10(1):708. Epub 2019 Feb 12.

Neurogenetics Group, Center for Molecular Neurology, VIB, University of Antwerp, Antwerp, 2610, Belgium.

Aminoacyl tRNA synthetases (ARSs) link specific amino acids with their cognate transfer RNAs in a critical early step of protein translation. Mutations in ARSs have emerged as a cause of recessive, often complex neurological disease traits. Here we report an allelic series consisting of seven novel and two previously reported biallelic variants in valyl-tRNA synthetase (VARS) in ten patients with a developmental encephalopathy with microcephaly, often associated with early-onset epilepsy. Read More

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http://dx.doi.org/10.1038/s41467-018-07953-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6372652PMC
February 2019
3 Reads
10.742 Impact Factor

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy.

Nat Commun 2019 02 12;10(1):707. Epub 2019 Feb 12.

Department of Neurosciences, University of California San Diego, La Jolla, CA, 92093, USA.

Aminoacyl-tRNA synthetases (ARSs) function to transfer amino acids to cognate tRNA molecules, which are required for protein translation. To date, biallelic mutations in 31 ARS genes are known to cause recessive, early-onset severe multi-organ diseases. VARS encodes the only known valine cytoplasmic-localized aminoacyl-tRNA synthetase. Read More

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http://www.nature.com/articles/s41467-018-07067-3
Publisher Site
http://dx.doi.org/10.1038/s41467-018-07067-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6372641PMC
February 2019
3 Reads
10.742 Impact Factor

Congenital CLN8 disease of neuronal ceroid lipofuscinosis: a novel phenotype.

Rev Neurol 2019 Feb;68(4):155-159

Hospital de Ninos de la Santisima Trinidad, Cordoba, Argentina.

Introduction: CLN8 disease is one of the thirteen recognized genetic types of neuronal ceroid lipofuscinosis, a group of neurodegenerative lysosomal storage disorders, most frequent in childhood. A putative 286 amino acids transmembrane CLN8 protein with unknown function is affected. Pathological variants in the CLN8 gene were associated with two different phenotypes: variant late-infantile in individuals from many countries worldwide, and epilepsy progressive with mental retardation, appearing in Finnish and Turkish subjects. Read More

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February 2019
7 Reads

Clinical spectrum of -related epileptic disorders.

Neurology 2019 Mar 8;92(11):e1238-e1249. Epub 2019 Feb 8.

From the University of Tübingen (S. Wolking, J.M., Y.G.W., H.L., J.S.), Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Tübingen, Germany; Luxembourg Centre for Systems Biomedicine (P.M.), University of Luxembourg, Esch-sur-Alzette; Pediatric Neurology and Neurogenetics Unit and Laboratories (D.M., R.G., C.M.), Children's Hospital Anna Meyer, University of Florence, Italy; Danish Epilepsy Centre (R.S.M.), Dianalund; Institute for Regional Health Services (R.S.M.), University of Southern Denmark, Odense; Department of Clinical and Experimental Epilepsy (S.B.), UCL Institute of Neurology and Epilepsy Society, UK, London; Division of Neurology (K.L.H., I.H.), Children's Hospital of Philadelphia, PA; Department of Pediatric Neurology (C.D.A.), Centre de Compétences Maladies Rares, CHU Besançon; Service de Génétique (N.C.), Hospices Civils des Lyon, Bron; GENDEV Team (N.C.), Neurosciences Research Center of Lyon, Bron, France; Neuropediatric Clinic and Clinic for Neurorehabilitation (K.S.), Epilepsy Center for Children and Adolescents, Schoen Klinik Vogtareuth, Germany; Beaumont Hospital (P.W.-W.), Dublin, Ireland; Department of Pediatrics, Division of Medical Genetics, Institute of Human Genetics (B.A.M.), Departments of Neurology and Pediatrics (A.N.), and Departments of Neurology and Pediatrics, and Institute of Human Genetics (M.R.C.), University of California, San Francisco; Department of Neurology (W.V.P.), University Hospitals Leuven, Belgium; Department of Pediatrics (L.L.S.), Hvidovre Hospital, Denmark; King's College Hospital (S.O., E.H., S.G., D.K.P.), London; Evelina London Children's Hospital (S.O., E.H., S.G.), London, UK; Section of Genetics (K.B., M.S.S.), Department of Pediatrics, University of Colorado and Children's Hospital Colorado, Aurora; Clinique Bernoise Montana (T.D.), Crans-Montana, Switzerland; Department of Neuropediatrics (H.M.), University Medical Center Schleswig-Holstein, Christian-Albrechts University, Kiel, Germany; National Institute for Health Research Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics (A.T.P., S.J.L.K., J.C.T.) and Department of Oncology (D.V.V.), University of Oxford, UK; Epilepsy Center (M.P.C.), Health Sciences Department, San Paolo Hospital, University of Milan; Child Neuropsychiatry (F.D.), Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Italy; Departments of Neurology and Clinical Genomics (R.H.G.) and Health Sciences Research and Clinical Genomics (E.W.K., C.K.), Mayo Clinic, Rochester, MN; Ambry Genetics (Z.P.), Aliso Viejo, CA; Department of Clinical Neuroscience (S.T.), King's College London; New Medicines (M.A., D.M.), UCB Pharma, Slough, UK; Neuropediatric Clinic and Clinic for Neurorehabilitation (G.J.K.), Epilepsy Center for Children and Adolescents, Schoen Klinik Vogtareuth, Germany; Research Institute for Rehabilitation, Transition and Palliation (G.J.K.), PMU Salzburg, Austria; Department of Neurology (D.H.L.), University of California, San Francisco; Neurogenetics Group (S. Weckhuysen), Center for Molecular Neurology, VIB, Antwerp; Laboratory of Neurogenetics (S. Weckhuysen), Institute Born-Bunge, University of Antwerp; Department of Neurology (S. Weckhuysen), Antwerp University Hospital, Antwerp, Belgium; Department of Basic & Clinical Neuroscience, Institute of Psychiatry, Psychology & Neuroscience (D.K.P.), MRC Centre for Neurodevelopmental Disorders (D.K.P.), King's College London, UK; Evelina London Children's Hospital (D.K.P.), London, UK; Department of Neuropediatrics (I.H.), University Medical Center Schleswig-Holstein, Christian-Albrechts University, Kiel, Germany; Institute of Neuroscience (R.H.T.), Henry Wellcome Building, Newcastle University; Neurology Research Group (M.I.R.), Institute of Life Science, Swansea University Medical School, Swansea, UK; Service de Génétique (G.L.), Hospices Civils des Lyon, Bron; GENDEV Team (G.L.), Neurosciences Research Center of Lyon, Bron, France; NIHR University College London Hospitals Biomedical Research Centre (S.M.S.), UCL Institute of Neurology, London, UK; Cologne Center for Genomics (D.L.), University of Cologne, Germany; Stanley Center for Psychiatric Research (D.L.) and Program in Medical and Population Genetics (D.L.), Broad Institute of MIT and Harvard, Cambridge; Psychiatric and Neurodevelopmental Genetics Unit (D.L.), Massachusetts General Hospital and Harvard Medical School, Boston.

Objective: The aim of this study was to expand the spectrum of epilepsy syndromes related to , encoding the presynaptic protein syntaxin-1B, and establish genotype-phenotype correlations by identifying further disease-related variants.

Methods: We used next-generation sequencing in the framework of research projects and diagnostic testing. Clinical data and EEGs were reviewed, including already published cases. Read More

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http://dx.doi.org/10.1212/WNL.0000000000007089DOI Listing
March 2019
3 Reads

Psychiatric Assessment in Patients with Mild Temporal Lobe Epilepsy.

Behav Neurol 2019 14;2019:4139404. Epub 2019 Jan 14.

Neurology Unit, Department of Medical and Surgical Sciences, University Magna Graecia, Catanzaro, Italy.

Objectives: The findings of previous studies focused on personality disorders in epileptic patients are difficult to interpret due to nonhomogeneous samples and noncomparable methods. Here, we aimed at studying the personality profile in patients with mild temporal lobe epilepsy (mTLE) with psychiatric comorbidity.

Materials And Methods: Thirty-five patients with mTLE (22 males, mean age 40. Read More

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https://www.hindawi.com/journals/bn/2019/4139404/
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http://dx.doi.org/10.1155/2019/4139404DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6348858PMC
January 2019
21 Reads

Prevalence of neuropsychiatric symptoms associated with malformations of cortical development.

Epilepsy Behav 2019 Mar 5;92:306-310. Epub 2019 Feb 5.

Department of Psychiatry, McGill University Health Centre, McGill University, Montreal, Canada; McConnell Brain Imaging Centre, Montreal Neurological Institute, McGill University, Montreal, Canada.

Purpose: Malformations of cortical development (MCD) are structural abnormality of the cortex or brain parenchyma with diverse clinical manifestations. Little is known about the association of psychiatric and behavioral problems in MCD. We aimed to determine prevalence and risk factors of neuropsychiatric symptoms in a cohort of adult patients with MCD. Read More

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http://dx.doi.org/10.1016/j.yebeh.2019.01.011DOI Listing
March 2019
1 Read

Clinical and electroencephalographic correlates of psychiatric features in children with frontal lobe epilepsy.

Epilepsy Behav 2019 Mar 4;92:283-289. Epub 2019 Feb 4.

Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Pisa, Italy. Electronic address:

Background And Objective: Frontal lobe epilepsy (FLE) is often associated with psychiatric features, although the factors predisposing to the concurrence of these conditions have yet to be determined, especially in younger children. We aimed at defining possible clinical and electroencephalography (EEG) features that may enhance the psychiatric risk in pediatric FLE.

Method: We performed a structured psychiatric assessment of 59 children with FLE, using both categorical and dimensional approaches, correlated psychopathology with epilepsy data, and cognitive development. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S15255050183070
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http://dx.doi.org/10.1016/j.yebeh.2019.01.008DOI Listing
March 2019
8 Reads

Levetiracetam-Associated Psychogenic Non-epileptic Seizures; A Hidden Paradox.

J Popul Ther Clin Pharmacol 2018 Jul 11;25(2):e1-e11. Epub 2018 Jul 11.

Dept of Neurology, Nizam's Institute of Medical Sciences, Hyderabad 500 082 India.

Objectives To study the clinical profile and outcome in patients with epilepsy who developed psychogenic non-epileptic seizures (PNES) associated with levetiracetam (LEV) use.   Methods In this prospective observational study, conducted over 1 year, 13 patients with epilepsy and PNES, documented by video electroencephalogram (VEEG) while on LEV, were included. Those with past history of psychiatric illnesses were excluded. Read More

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http://dx.doi.org/10.22374/1710-6222.25.2.1DOI Listing
July 2018
6 Reads

Beyond Trauma: A Multiple Pathways Approach to Auditory Hallucinations in Clinical and Nonclinical Populations.

Schizophr Bull 2019 02;45(45 Suppl 1):S24-S31

School of Psychological Science, University of Western Australia, Perth, Western Australia, Australia.

That trauma can play a significant role in the onset and maintenance of voice-hearing is one of the most striking and important developments in the recent study of psychosis. Yet the finding that trauma increases the risk for hallucination and for psychosis is quite different from the claim that trauma is necessary for either to occur. Trauma is often but not always associated with voice-hearing in populations with psychosis; voice-hearing is sometimes associated with willful training and cultivation in nonclinical populations. Read More

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http://dx.doi.org/10.1093/schbul/sby110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6357973PMC
February 2019
1 Read

Epilepsy and Sleep-Related Breathing Disturbances.

Chest 2019 Jan 31. Epub 2019 Jan 31.

Cleveland Clinic Sleep Disorders Center, Cleveland, OH. Electronic address:

Epilepsy is the fourth most common neurologic disorde in the United States, affecting over 2.2 million people. Epilepsy is associated with a number of medical and psychiatric comorbidities, higher health-care use and cost, and substantial economic burden. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00123692193006
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http://dx.doi.org/10.1016/j.chest.2019.01.016DOI Listing
January 2019
9 Reads

[A role of inflammasomes in the pathogenesis of neurological and mental diseases].

Zh Nevrol Psikhiatr Im S S Korsakova 2018;118(12):81-91

Sechenov First Moscow State Medical University of the MH, Moscow, Russia.

Inflammasomes are macromolecular complexes that contain many copies of receptors recognizing molecular patterns of pathogenic agents (PAMP) and damage-associated structures (DAMP), and also include molecules of adapter protein ASC and procaspase-1. Activation of inflammasomes leads to the formation of active caspase-1 that, in turn, provides the maturation of pro-IL-1β and pro-IL-18 to IL-1β and IL-18. The latter cytokines play an important role in control of neuroinlfammation in the central nervous system contributing to the pathogenesis of a series of neurological, neurodegenerative and mental disorders. Read More

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http://dx.doi.org/10.17116/jnevro201811812181DOI Listing
January 2018
3 Reads

Refractory status epilepticus in adults admitted to ITU in Glasgow 1995-2013 a longitudinal audit highlighting the need for action for provoked and unprovoked status epilepticus.

Seizure 2019 Feb 14;65:138-143. Epub 2019 Jan 14.

Department of Neurology, Institute of Neurosciences, Queen Elizabeth University Hospital, Glasgow, G51 4TF, United Kingdom; School of Medicine, Wolfson Medical School Building, University of Glasgow, Glasgow, G12 8QQ, United Kingdom. Electronic address:

Purpose: Our primary objective was to determine incidence of status epilepticus in adults admitted to 5 ITU settings in Glasgow over 18 years. We wanted to investigate if there are any change in causes and outcomes of SE over last decade. We also compared outcomes of De Novo statuts Epilpeticus (DNSE) and Stauts Epilepticus in patients with previous Epilepsy (SEPE). Read More

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http://dx.doi.org/10.1016/j.seizure.2019.01.011DOI Listing
February 2019
2 Reads

Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region.

Epilepsia 2019 Mar 25;60(3):406-418. Epub 2019 Jan 25.

Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.

Objective: To characterize the phenotypic spectrum associated with GNAO1 variants and establish genotype-protein structure-phenotype relationships.

Methods: We evaluated the phenotypes of 14 patients with GNAO1 variants, analyzed their variants for potential pathogenicity, and mapped them, along with those in the literature, on a three-dimensional structural protein model.

Results: The 14 patients in our cohort, including one sibling pair, had 13 distinct, heterozygous GNAO1 variants classified as pathogenic or likely pathogenic. Read More

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http://dx.doi.org/10.1111/epi.14653DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6452443PMC
March 2019
1 Read

Medication treatment for attention-deficit/hyperactivity disorder and the risk of acute seizures in individuals with epilepsy.

Epilepsia 2019 Feb 25;60(2):284-293. Epub 2019 Jan 25.

Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.

Objective: Attention-deficit/hyperactivity disorder (ADHD) affects 10%-30% of individuals with epilepsy, yet concerns remain regarding the safety of ADHD medication in this group. The objective of this study was to examine the risk of acute seizures associated with ADHD medication in individuals with epilepsy.

Methods: A total of 21 557 individuals with a seizure history born between 1987 and 2003 were identified from Swedish population registers. Read More

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http://dx.doi.org/10.1111/epi.14640DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6365170PMC
February 2019
1 Read
4.571 Impact Factor

Buspirone for the treatment of anxiety-related symptoms in Angelman syndrome: a case series.

Psychiatr Genet 2019 04;29(2):51-56

Department of Pediatrics, Lurie Center for Autism, Massachusetts General Hospital, Lexington.

Objectives: Angelman syndrome (AS) is a neurogenetic disorder associated with impaired expression of the ubiquitin-protein ligase E3A gene on chromosome 15. AS results in intellectual disability with limited expressive language, epilepsy, ataxia, sleep impairment, and problematic behavior which may include anxiety. Buspirone is a serotonin (5-HT)1A receptor partial agonist used in the treatment of anxiety disorders and may, therefore, have a treatment role for patients with AS. Read More

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http://dx.doi.org/10.1097/YPG.0000000000000218DOI Listing

Transient Cognitive Impairment in Epilepsy.

Front Mol Neurosci 2018 7;11:458. Epub 2019 Jan 7.

NEST, Istituto Nanoscienze-CNR and Scuola Normale Superiore, Pisa, Italy.

Impairments of the dialog between excitation and inhibition (E/I) is commonly associated to neuropsychiatric disorders like autism, bipolar disorders and epilepsy. Moderate levels of hyperexcitability can lead to mild alterations of the EEG and are often associated with cognitive deficits even in the absence of overt seizures. Indeed, various testing paradigms have shown degraded performances in presence of acute or chronic non-ictal epileptiform activity. Read More

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http://dx.doi.org/10.3389/fnmol.2018.00458DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6330286PMC
January 2019
1 Read

Long-Term, Targeted Delivery of GDNF from Encapsulated Cells Is Neuroprotective and Reduces Seizures in the Pilocarpine Model of Epilepsy.

J Neurosci 2019 Mar 21;39(11):2144-2156. Epub 2019 Jan 21.

Department of Medical Science, Section of Pharmacology, Neuroscience Center, University of Ferrara and National Institute of Neuroscience, 44121 Ferrara, Italy.

Neurotrophic factors are candidates for treating epilepsy, but their development has been hampered by difficulties in achieving stable and targeted delivery of efficacious concentrations within the desired brain region. We have developed an encapsulated cell technology that overcomes these obstacles by providing a targeted, continuous, synthesized source of high levels of neurotrophic molecules from human clonal ARPE-19 cells encapsulated into hollow fiber membranes. Here we illustrate the potential of this approach for delivering glial cell line-derived neurotrophic factor (GDNF) directly to the hippocampus of epileptic rats. Read More

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http://www.jneurosci.org/lookup/doi/10.1523/JNEUROSCI.0435-1
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http://dx.doi.org/10.1523/JNEUROSCI.0435-18.2018DOI Listing
March 2019
10 Reads

Disrupted cortico-ponto-cerebellar pathway in patients with hemimegalencephaly.

Brain Dev 2019 Jan 18. Epub 2019 Jan 18.

Integrative Brain Imaging Center, National Center Hospital of Neurology and Psychiatry, Tokyo, Japan.

Objective: Cerebellar dysmaturation and injury is associated with a wide range of neuromotor, neurocognitive and behavioral disorders as well as with preterm birth. We used diffusion tensor MR imaging to investigate a disruption in structural cortico-ponto-cerebellar (CPC) connectivity in children with infantile-onset severe epilepsy.

Methods: We performed CPC tract reconstructions in 24 hemimegalencephaly (HME) patients, 28 West syndrome (WS) of unknown etiology patients, and 25 pediatric disease control subjects without a history of epilepsy nor brain abnormality on MRI. Read More

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http://dx.doi.org/10.1016/j.braindev.2019.01.002DOI Listing
January 2019
1 Read

Prevalence, correlates for early neurological disorders and association with functioning among children and adolescents with HIV/AIDS in Uganda.

BMC Psychiatry 2019 Jan 21;19(1):34. Epub 2019 Jan 21.

Mental Health Project, MRC/UVRI and LSHTM Uganda Research Unit, P. O. Box 49, Entebbe, Uganda.

Background: The aim of this study was to determine the prevalence of neurological disorders and their associated correlates and relations with clinical and behavioural problems among children and adolescents with HIV/AIDS (CA-HIV).

Methods: This study involved a sample of 1070 CA-HIV/caregiver dyads who were evaluated at their 6-month follow-up visit as part of their participation in the longitudinal study, 'Mental health among HIV infected CHildren and Adolescents in KAmpala and Masaka, Uganda (the CHAKA study)'. Participants completed an extensive battery of measures that included a standardized DSM-5- referenced rating scale, the parent version (5-18 years) of the Child and Adolescent Symptom Inventory-5 (CASI-5). Read More

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http://dx.doi.org/10.1186/s12888-019-2023-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6341558PMC
January 2019
1 Read

Role of Ketogenic Diets in Neurodegenerative Diseases (Alzheimer's Disease and Parkinson's Disease).

Nutrients 2019 Jan 15;11(1). Epub 2019 Jan 15.

Department of Dietetics, Faculty of Human Nutrition and Consumer Sciences, Warsaw University of Life Sciences (WULS-SGGW), 159c Nowoursynowska Str., 02-776 Warsaw, Poland.

The goal of this review was to assess the effectiveness of ketogenic diets on the therapy of neurodegenerative diseases. The ketogenic diet is a low-carbohydrate and fat-rich diet. Its implementation has a fasting-like effect, which brings the body into a state of ketosis. Read More

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http://dx.doi.org/10.3390/nu11010169DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6356942PMC
January 2019
4 Reads