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Seizure disorders

Ashley N Selner, Clayton L Rosinski, Ryan G Chiu, David Rosenberg, Anisse N Chaker, Hamidou Drammeh, Darian R Esfahani, Ankit I Mehta
BACKGROUND: Epilepsy is one of the most common neurologic disorders, and often remains refractory despite pharmacologic treatment. In patients unamenable to surgical resection of seizure foci, vagal nerve stimulation (VNS) may provide benefit. Multiple case series have attempted to construct a risk profile for VNS, yet are largely confined to pediatric or single-center populations. OBJECTIVE: To compile a risk profile for adults undergoing VNS, utilizing multi-center patient data from an international database...
October 13, 2018: World Neurosurgery
Annalisa G Sega, Emily K Mis, Kristin Lindstrom, Saadet Mercimek-Andrews, Weizhen Ji, Megan T Cho, Jane Juusola, Monica Konstantino, Lauren Jeffries, Mustafa K Khokha, Saquib Ali Lakhani
BACKGROUND: Early infantile epileptic encephalopathies are severe disorders consisting of early-onset refractory seizures accompanied often by significant developmental delay. The increasing availability of next-generation sequencing has facilitated the recognition of single gene mutations as an underlying aetiology of some forms of early infantile epileptic encephalopathies. OBJECTIVES: This study was designed to identify candidate genes as a potential cause of early infantile epileptic encephalopathy, and then to provide genetic and functional evidence supporting patient variants as causative...
October 15, 2018: Journal of Medical Genetics
Claudia Cava, Ida Manna, Antonio Gambardella, Gloria Bertoli, Isabella Castiglioni
Epilepsy includes a group of disorders of the brain characterized by an enduring predisposition to generate epileptic seizures. Although familial epilepsy has a genetic component and heritability, the etiology of the majority of non-familial epilepsies has no known associated genetic mutations. In epilepsy, recent epigenetic profiles have highlighted a possible role of microRNAs in its pathophysiology. In particular, molecular profiling identifies a significant number of microRNAs (miRNAs) altered in epileptic hippocampus of both animal models and human tissues...
September 13, 2018: Molecular Therapy. Nucleic Acids
J S van Ool, F M Snoeijen-Schouwenaars, I Y Tan, H J Schelhaas, A P Aldenkamp, J G M Hendriksen
BACKGROUND: In the Diagnostic and Statistical Manual of Mental Disorders-Fifth edition (DSM-5), the diagnostic criteria of intellectual disability (ID) include three domains of adaptive deficits: the conceptual, social and practical. Substantial intra-individual differences between domains can be considered an ID domain discrepancy. METHOD: We explored the associations between ID domains, discrepancies and epilepsy in 189 adults (mean age = 47.9; SD = 15.6)...
October 14, 2018: Journal of Intellectual Disability Research: JIDR
Hillary Shurtleff, Dwight Barry, Sirisak Chanprasert, Tim Firman, Molly Warner, Russell P Saneto
INTRODUCTION: This retrospective descriptive study was undertaken to further define the intelligence profiles of children with mitochondrial disorders, in the context of seizures and age of symptom onset. METHODS: We retrospectively identified forty-nine pediatric patients with definitive mitochondrial disease diagnoses and complete intelligence or adaptive functioning testing data. Patients were 0-216 months at onset of symptoms and 61-250 months of age at testing...
October 10, 2018: Epilepsy & Behavior: E&B
Anita Shea, Alex Hatch, Luisa De Risio, Elsa Beltran
BACKGROUND: Abnormal sleep behavior has been reported in 5 dogs during recovery from tetanus. HYPOTHESIS: REM sleep behavior disorder (RBD) is a more common consequence of tetanus than previously reported in veterinary literature and easily confused for epileptic seizures. ANIMALS: Sixty-one client-owned dogs diagnosed with tetanus at 2 UK referral centers. METHODS: A retrospective review of medical records was combined with a questionnaire sent to owners of surviving dogs, to identify cases that developed clinically probable RBD and determine its clinical progression and effect on quality of life of affected dogs and their owners...
October 12, 2018: Journal of Veterinary Internal Medicine
Muhammad Imran Naseer, Mohammad Khalid Alwasiyah, Angham Abdulrahman Abdulkareem, Rayan Abdullah Bajammal, Carlos Trujillo, Muhammad Abu-Elmagd, Mohammad Alam Jafri, Adeel G Chaudhary, Mohammad H Al-Qahtani
Epileptic encephalopathies are genetically heterogeneous disorders which leads to epilepsy and cause neurological disorders. Seizure threshold 2 (SZT2) gene located on chromosome 1p34.2 encodes protein mainly expressed predominantly in the parietal and frontal cortex and dorsal root ganglia in the brain. Previous studies in mice showed that mutation in this gene can confers low seizure threshold, enhance epileptogenesis and in human may leads to facial dysmorphism, intellectual disability, seizure and macrocephaly...
November 2018: Genes & Genomics
Sotaro Kanai, Tohru Okanishi, Ayataka Fujimoto, Shinji Itamura, Shimpei Baba, Mitsuyo Nishimura, Kazuya Itomi, Hideo Enoki
BACKGROUND: Patients with MECP2 duplication syndrome present with distinct facial anomalies and clinical features such as global developmental delay, recurrent respiratory infections, and epileptic seizures. Approximately half of all patients develop epileptic seizures which are refractory in most cases despite active medical management. Furthermore, no previous reports have discussed the efficacy of surgical treatment for seizures in patients with MECP2 duplication syndrome. CASE REPORT: In the present report, we describe a case of MECP2 duplication syndrome in a 15-year-old boy who developed epileptic seizures following influenza-associated acute encephalitis...
October 9, 2018: Brain & Development
Iliana Kotwas, Jean-Arthur Micoulaud-Franchi, Stéphanie Khalfa, Aileen McGonigal, Mireille Bastien-Toniazzo, Fabrice Bartolomei
BACKGROUND: Temporal lobe epilepsy (TLE) and psychogenic non-epileptic seizures (PNES) are conditions frequently associated with dysfunction in emotional regulation leading to increased risk of affective disorders. This study investigates emotional processing with an objective measure of emotional reactivity in patients with TLE and patients with PNES. METHODS: 34 patients with TLE and 14 patients with PNES were evaluated on skin conductance responses (SCR) to emotions induced by short films and compared to 34 healthy controls...
October 5, 2018: Journal of Affective Disorders
Katherine Nelson, Christopher Jackman, Jennifer Bell, Chie-Schin Shih, Katelyn Payne, Stephen Dlouhy, Laurence Walsh
Mutations in the STE20-related kinase adaptor α ( STRADA) gene have been reported to cause an autosomal recessive neurodevelopmental disorder characterized by infantile-onset epilepsy, developmental delay, and craniofacial dysmorphisms. To date, there have been 17 reported individuals diagnosed with STRADA mutations, 16 of which are from a single Old Order Mennonite cohort and share a deletion of exons 9-13. The remaining individual is of consanguineous Indian descent and has a homozygous single-base pair duplication...
October 12, 2018: Journal of Child Neurology
Ingo Helbig, Erin Rooney Riggs, Carrie-Anne Barry, Karl Martin Klein, David Dyment, Courtney Thaxton, Bekim Sadikovic, Tristan T Sands, Jacy L Wagnon, Khalida Liaquat, Maria Roberta Cilio, Ghayda Mirzaa, Kristen Park, Erika Axeen, Elizabeth Butler, Tanya M Bardakjian, Pasquale Striano, Annapurna Poduri, Rebecca K Siegert, Andrew R Grant, Katherine L Helbig, Heather C Mefford
The field of epilepsy genetics is advancing rapidly and epilepsy is emerging as a frequent indication for diagnostic genetic testing. Within the larger ClinGen framework, the ClinGen Epilepsy Gene Curation Expert Panel is tasked with connecting two increasingly separate fields: the domain of traditional clinical epileptology, with its own established language and classification criteria, and the rapidly evolving area of diagnostic genetic testing that adheres to formal criteria for gene and variant curation...
November 2018: Human Mutation
Lara Paracchini, Luca Beltrame, Lucia Boeri, Federica Fusco, Paolo Caffarra, Sergio Marchini, Diego Albani, Gianluigi Forloni
BACKGROUND: The typical familial form of Alzheimer's disease (FAD) accounts for about 5% of total Alzheimer's disease (AD) cases. Presenilins (PSEN1 and PSEN2) and amyloid-β (A4) precursor protein (APP) genes carry all reported FAD-linked mutations. However, other genetic loci may be involved in AD. For instance, seizure-related gene 6 (SEZ6) has been reported in brain development and psychiatric disorders and is differentially expressed in the cerebrospinal fluid of AD cases. METHODS: We describe a targeted exome sequencing analysis of a large Italian kindred with AD, negative for PSEN and APP variants, that indicated the SEZ6 heterozygous mutation R615H is associated with the pathology...
October 12, 2018: Alzheimer's Research & Therapy
Chang Su, Xue-Jun Liang, Wen-Jing Li, Di Wu, Min Liu, Bing-Yan Cao, Jia-Jia Chen, Miao Qin, Xi Meng, Chun-Xiu Gong
Objective: To characterize the genotype and phenotype of Chinese patients with congenital hyperinsulinism (CHI) caused by activating mutations in GLUD1 , the gene that encodes mitochondrial enzyme glutamate dehydrogenase (GDH). Methods: The clinical data of glutamate dehydrogenase hyperinsulinism (GDH-HI) patients were reviewed, and gene mutations were confirmed by whole exome sequencing (WES) and Sanger DNA sequencing. Results: Twenty-six patients with GDH-HI heterozygous missense mutations were identified from 240 patients diagnosed as congenital hyperinsulinism over past 15 years...
2018: Journal of Diabetes Research
Sabrina Kalam, Aravindhan Baheerathan, Cillian McNamara, Victoria Singh-Curry
Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis was first reported in 2005 in four patients with ovarian teratomas; there have been many further cases reported since the antigen for the NMDAR antibody was confirmed in 2007. Patients characteristically have a well-defined set of features, characterised by psychiatric disturbance, seizures and cognitive disturbance, followed by movement disorders, disorders of consciousness and dysautonomia. To date, 14 cases of NMDAR encephalitis have been described in the context of pregnancy...
October 10, 2018: Practical Neurology
Chunmei Jin, Yinhua Zhang, Shinhyun Kim, Yoonhee Kim, Yeunkum Lee, Kihoon Han
The SH3 and multiple ankyrin repeat domains 3 (SHANK3) gene encodes core scaffolds in neuronal excitatory postsynapses. SHANK3 duplications have been identified in patients with hyperkinetic disorders and early-onset generalized tonic-clonic seizures. Consistently, Shank3 transgenic (TG) mice, which mildly overexpress Shank3 proteins exhibit hyperkinetic behavior and spontaneous seizures. However, the seizure phenotype of Shank3 TG mice has only been investigated in adults of the seizure-sensitive strain FVB/N...
October 10, 2018: Molecular Brain
Mari Wold Henriksen, Kirstine Ravn, Benedicte Paus, Stephen von Tetzchner, Ola H Skjeldal
BACKGROUND: Rett syndrome (RTT) is a neurodevelopmental disorder. In more than 95% of females with classic RTT a pathogenic mutation in MECP2 has been identified. This leaves a small fraction of classic cases with other genetic causes. So far, there has not been reported any other gene that may account for the majority of these cases. CASE PRESENTATION: We describe two females who fulfill the diagnostic criteria for classic RTT, with pathogenic de novo mutations in SCN1A, which usually leads to Dravet syndrome...
October 11, 2018: BMC Medical Genetics
Anatoly Buchin, Cliff C Kerr, Gilles Huberfeld, Richard Miles, Boris Gutkin
Pharmacoresistant epilepsy is a common neurological disorder in which increased neuronal intrinsic excitability and synaptic excitation lead to pathologically synchronous behavior in the brain. In the majority of experimental and theoretical epilepsy models, epilepsy is associated with reduced inhibition in the pathological neural circuits, yet effects of intrinsic excitability are usually not explicitly analyzed. Here we present a novel neural mass model that includes intrinsic excitability in the form of spike-frequency adaptation in the excitatory population...
September 2018: ENeuro
Sara Gasparini, Ettore Beghi, Edoardo Ferlazzo, Massimiliano Beghi, Vincenzo Belcastro, Klaus P Biermann, Gabriella Bottini, Giuseppe Capovilla, Rosa A Cervellione, Vittoria Cianci, Giangennaro Coppola, Cesare M Cornaggia, Pasquale De Fazio, Salvatore De Masi, Giovambattista De Sarro, Maurizio Elia, Giuseppe Erba, Lucia Fusco, Antonio Gambardella, Valentina Gentile, Anna T Giallonardo, Renzo Guerrini, Francesca Ingravallo, Alfonso Iudice, Angelo Labate, Ersilia Lucenteforte, Adriana Magaudda, Laura Mumoli, Costanza Papagno, Giovanni B Pesce, Eugenio Pucci, Pietrantonio Ricci, Antonino Romeo, Rui Quintas, Chiara Sueri, Giovanna Vitaliti, Riccardo Zoia, Umberto Aguglia
BACKGROUND: The International League Against Epilepsy (ILAE) proposed a diagnostic scheme for psychogenic nonepileptic seizures (PNES). The debate on ethical aspects of the diagnostic procedures is ongoing, the treatment is not standardized, and management might differ according to the age groups. OBJECTIVE: To reach an expert and stakeholder consensus on PNES management. METHODS: A board comprising adult and child neurologists, neuropsychologists, psychiatrists, pharmacologists, experts in forensic medicine and bioethics as well as patients' representatives was formed...
October 9, 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
Anika Neureiter, Björn Brändl, Michaela Hiber, Rashmi Tandon, Franz-Josef Müller, Laura Steenpass
Angelman syndrome (AS) is a neurodevelopmental disorder with leading symptoms of happy demeanor, intellectual disability, ataxia and seizures. AS can be caused by genetic and epigenetic aberrations, resulting in the absence of functional UBE3A protein in the brain. UBE3A is an imprinted gene, which is, in neurons of the brain, expressed exclusively from maternal chromosome 15. The generated iPSC line was derived from skin fibroblasts of a patient with AS, who, due to an imprinting defect, lacked DNA methylation at the chromosome 15 imprinting center, which controls maternal-specific expression of UBE3A...
September 24, 2018: Stem Cell Research
Paolo Detti, Garazi Zabalo Manrique de Lara, Renato Bruni, Marco Pranzo, Francesco Sarnari, Giampaolo Vatti
Epilepsy is a neurological disorder arising from anomalies of the electrical activity in the brain, affecting about 65 millions individuals worldwide. {Objective:} This work proposes a patient-specific approach for short-term prediction (i.e., within few minutes) of epileptic seizures. {Methods:} We use noninvasive EEG data, since the aim is exploring the possibility of developing a noninvasive monitoring/control device for the prediction of seizures. Our approach is based on finding synchronization patterns in the EEG that allow to distinguish in real time preictal from interictal states...
October 8, 2018: IEEE Transactions on Bio-medical Engineering
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