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Epilepsy genetics

Cha Gon Lee, Jeehun Lee, Munhyang Lee
Genetic heterogeneity of common genetic generalized epilepsy syndromes is frequently considered. The present study conducted a focused analysis of potential candidate or susceptibility genes for common genetic generalized epilepsy syndromes using multi-gene panel testing with next-generation sequencing. This study included patients with juvenile myoclonic epilepsy, juvenile absence epilepsy, and epilepsy with generalized tonic-clonic seizures alone. We identified pathogenic variants according to the American College of Medical Genetics and Genomics guidelines and identified susceptibility variants using case-control association analyses and family analyses for familial cases...
2018: PloS One
Idrish Ali, Arun Gandrathi, Thomas Zheng, Margaret J Morris, Terence J O'Brien, Chris French
OBJECTIVES: Neuropeptide Y (NPY) potently suppresses spike-wave discharges (SWDs) in a genetic rat model of absence epilepsy (GAERS), but the underlying neurophysiologic mechanisms are not clear. We therefore sought to determine the in vivo effects of NPY on neuronal firing in the cortico-thalamo-cortical network activity, known to play a critical role in the generation of SWDs in these rats. METHODS: NPY was administered intracerebroventricularly (ICV) or in separate experiments locally on the neurons of caudal thalamic reticular nucleus (NRT) by use of juxtacellular iontophoresis in triple-barrel electrodes in male GAERS aged 12-15 weeks, in vivo under neuroleptic anesthesia...
June 20, 2018: Epilepsia
Michael Hamerle, Leyli Ghaeni, Alexander Kowski, Florian Weissinger, Martin Holtkamp
Purpose: This study aimed to assess alcohol consumption and the occurrence of alcohol-related seizures in patients with epilepsy within the last 12 months. Methods: In an epilepsy outpatient clinic, a standardized questionnaire was used to collect data retrospectively from consecutive adult epilepsy patients who had been suffering from the disease for at least 1 year. Logistic regression analyses were performed to identify independent predictors. Results: A total of 310 patients with epilepsy were included...
2018: Frontiers in Neurology
Aliesha Griffin, Kyla R Hamling, SoonGweon Hong, Mana Anvar, Luke P Lee, Scott C Baraban
Epilepsy is a common chronic neurological disease affecting almost 3 million people in the United States and 50 million people worldwide. Despite availability of more than two dozen FDA-approved anti-epileptic drugs (AEDs), one-third of patients fail to receive adequate seizure control. Specifically, pediatric genetic epilepsies are often the most severe, debilitating and pharmaco-resistant forms of epilepsy. Epileptic syndromes share a common symptom of unprovoked seizures. While some epilepsies/forms of epilepsy are the result of acquired insults such as head trauma, febrile seizure, or viral infection, others have a genetic basis...
2018: Frontiers in Pharmacology
John K L Wong, Hongsheng Gui, Maxwell Kwok, Ping Wing Ng, Colin H T Lui, Larry Baum, Pak Chung Sham, Patrick Kwan, Stacey S Cherny
Objective: We investigated the role of rare genetic variants and of de novo variants in the pathogenesis of mesial temporal lobe epilepsy related to hippocampal sclerosis (MTLE-HS). Methods: Whole-exome sequencing (WES) was performed in patients with MTLE-HS and their unaffected parents (trios). Genes or gene sets that were enriched with predicted damaging rare variants in the patients as compared to population controls were identified. Patients and their parents were compared to identify whether the variants were de novo or inherited...
June 2018: Neurology. Genetics
Pasquale Striano, Carlo Nobile
No abstract text is available yet for this article.
June 2018: Neurology. Genetics
Jodi L Pawluski, Mathieu Kuchenbuch, Sarah Hadjadj, Gabriel Dieuset, Nathalie Costet, Laurent Vercueil, Arnaud Biraben, Benoît Martin
Childhood absence epilepsy (CAE) is one of the most frequent epilepsies in infancy. The first-line recommended therapy for CAE is based on the prescription of the narrow-spectrum ethosuximide and the broad-spectrum valproic acid, which have similar efficacy in the first 12 months. Nevertheless, some antiepileptic drugs (AEDs) may worsen seizure duration and type in this syndrome. In line with this, we have encountered a case of identical twins with CAE and early exposure to different antiseizure drugs leading to divergent outcomes...
June 14, 2018: Epilepsia
A S Vieira, D B Dogini, I Lopes-Cendes
Protein coding sequences represent only 2% of the human genome. Recent advances have demonstrated that a significant portion of the genome is actively transcribed as non-coding RNA molecules. These non-coding RNAs are emerging as key players in the regulation of biological processes, and act as "fine-tuners" of gene expression. Neurological disorders are caused by a wide range of genetic mutations, epigenetic and environmental factors, and the exact pathophysiology of many of these conditions is still unknown...
June 11, 2018: Brazilian Journal of Medical and Biological Research, Revista Brasileira de Pesquisas Médicas e Biológicas
Tingsong Li, Min Cheng, Juan Wang, Siqi Hong, Mei Li, Shuang Liao, Lingling Xie, Yajun Qin, Li Jiang
OBJECTIVE: To detect syntaxin-binding protein 1 (STXBP1) mutations in Chinese patients with early onset epileptic encephalopathy (EOEE) of unknown etiology. METHODS: Targeted next-generation sequencing was used to identify STXBP1 mutations in 143 Chinese patients with EOEE of unknown etiology. A filtering process was applied to prioritize rare variants of potential functional significance. Then Sanger sequencing was employed to validate the parental origin of the variants...
June 13, 2018: Genes, Brain, and Behavior
Ping Qian, Xiaoling Yang, Xiaojing Xu, Xiaoyan Liu, Yuehua Zhang, Zhixian Yang
OBJECTIVE: To detect potential mutations of the glutamate receptor subunit (GRIN2A) gene and delineate the clinical-genetic characteristics of patients with epilepsy-aphasia spectrum (EAS) disorders. METHODS: One hundred twenty two patients with Landau-Kleffner syndrome (LKS), epileptic encephalopathy with continuous spike-and-wave during sleep (CSWS), benign childhood epilepsy with centrotemporal spikes (BECT) and BECT variants were recruited. Potential mutations of the GRIN2A gene were screened with Sanger sequencing...
June 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Na He, Zhi-Jian Lin, Jie Wang, Feng Wei, Heng Meng, Xiao-Rong Liu, Qian Chen, Tao Su, Yi-Wu Shi, Yong-Hong Yi, Wei-Ping Liao
Epileptic encephalopathies comprise a group of catastrophic epilepsies with heterogeneous genetic etiology. Although next-generation sequencing techniques can reveal a number of de novo variants in epileptic encephalopathies, evaluating the pathogenicity of these variants can be challenging. Determining the pathogenic potential of genes in epileptic encephalopathies is critical before evaluating the pathogenicity of variants identified in an individual. We reviewed de novo variants in epileptic encephalopathies, including their genotypes and functional consequences...
June 12, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Sujay V Kharade, Haruto Kurata, Aaron Bender, Anna L Blobaum, Eric E Figueroa, Amanda M Duran, Meghan Kramer, Emily Days, Paige Vinson, Daniel Flores, Lisa M Satlin, Jens Meiler, C David Weaver, Craig W Lindsley, Corey R Hopkins, Jerod S Denton
The inward rectifier potassium (Kir) channel Kir4.1 (KCNJ10) carries out important physiological roles in epithelial cells of the kidney, astrocytes in the central nervous system, and stria vascularis of the inner ear. Loss-of-function mutations in KCNJ10 lead to EAST/SeSAME syndrome, which is characterized by epilepsy, ataxia, renal salt wasting, and sensorineural deafness. While genetic approaches have been indispensable for establishing the importance of Kir4.1 in the normal function of these tissues, the availability of pharmacological tools for acutely manipulating the activity of Kir4...
June 12, 2018: Molecular Pharmacology
Afnan Alhakeem, Faisal Alshibani, Brahim Tabarki
INTRODUCTION: SLC13A5-related epileptic encephalopathy is a recently described autosomal recessive disorder that is characterized by infantile epilepsy and developmental delay. Seizures are markedly drug resistant and often induced by fever; they mainly occur in clusters, sometimes evolving into status epilepticus. METHODS AND RESULTS: We report the use of stiripentol as an adjunctive therapy in three siblings with drug-resistant SLC13A5-related epilepsy. The three patients showed remarkable improvement in the severity and frequency of seizures, status epilepticus, emergency department visits, and alertness...
June 9, 2018: Brain & Development
Soheir S Abou El Ella, Maha Atef Tawfik, Wafaa Moustafa M Abo El Fotoh, Omar Ahmed M Soliman
PURPOSE: Previous studies have suggested that GABARG2 (Gamma-Aminobutyric acid type A Receptor Gamma 2 subunit) could be a gene of interest in genetic epilepsy; through possible associations with increased epilepsy susceptibility or resistance to antiepileptic drugs. The present study was designed to explore whether the GABARG2 C588 T (rs211037) genetic variant predicts susceptibility to epilepsy and pharmacoresistance among Egyptian children with Idiopathic Generalized Epilepsy (IGE)...
June 6, 2018: Seizure: the Journal of the British Epilepsy Association
Ying Wang, Jiao Liang, Liying Chen, Yating Shen, Junli Zhao, Cenglin Xu, Xiaohua Wu, Heming Cheng, Xiaoying Ying, Yi Guo, Shuang Wang, Yudong Zhou, Yi Wang, Zhong Chen
Temporal lobe epilepsy (TLE) is the most common type of epilepsy and is often medically refractory. Previous studies suggest that selective pharmaco-genetic inhibition of pyramidal neurons has therapeutic value for the treatment of epilepsy, however there is a risk of disrupting normal physical functions. Here, we test whether pharmaco-genetic activation of parvalbumin neurons, which are transgenetically transduced with the modified muscarinic receptor hM3Dq can attenuate TLE. We found that pharmaco-genetic activation of hippocampal parvalbumin neurons in epileptogenic zone not only significantly extend the latency to different seizure stages and attenuates seizure activities in acute seizure model, but also greatly alleviate the severity of seizure onsets in two chronic epilepsy models...
June 9, 2018: Neurobiology of Disease
Anders Sonne Munch, Arnela Saljic, Kim Boddum, Morten Grunnet, Charlotte Hougaard, Thomas Jespersen
Progressive myoclonus epilepsies (PMEs) constitute a cluster of inherent, genetically diverse, rare seizure disorders characterized by ataxia, tonic-clonic seizures, and action myoclonus. Recently, a mutation in the KCNC1 gene (Arg320His) was described in a group of PME patients. The KCNC1 gene encodes the Kv 3.1 potassium ion channel responsible for the rapid repolarization of the membrane potential following action potential firing in fast spiking GABAergic interneurons (FSI), thereby enabling high firing frequency...
June 9, 2018: European Journal of Pharmacology
Hilary J Vernon, Laurence A Bindoff
Ataxia is one of the most frequent symptoms of mitochondrial disease. In most cases it occurs as part of a syndromic disorder and the combination of ataxia with other neurologic involvement such as epilepsy is common. Mitochondrial ataxias can be caused by disturbance of the cerebellum and its connections, involvement of proprioception (i.e., sensory ataxia) or a combination of both (spinocerebellar). There are no specific features that define an ataxia as mitochondrial, except perhaps the tendency for it to occur together with involvement of multiple other sites, both in the nervous system and outside...
2018: Handbook of Clinical Neurology
Julio Rodríguez-López, Gerardo Flórez, Vanessa Blanco, César Pereiro, José Manuel Fernández, Emilio Fariñas, Valentín Estévez, Jesús Gómez-Trigo, Xaquín Gurriarán, Raquel Calvo, Pilar Sáiz, Fernando Lino Vázquez, Manuel Arrojo, Javier Costas
Genetics plays an important role in alcohol abuse/dependence. Its heritability has been estimated as 45-65%. Rare copy number variations (CNVs) have been confirmed as relevant genetic factors in other neuropsychiatric disorders, such as autism spectrum disorders, schizophrenia, epilepsy, or Tourette syndrome. In the present study, we analyzed the role of rare CNVs affecting exons of coding genes in a sample from Northwest Spain genotyped using the Illumina Infinium PsychArray Beadchip. After rigorous genotyping quality control procedure, 712 patients with alcohol abuse or dependence and 804 controls were used for CNV detection...
June 2, 2018: Journal of Psychiatric Research
Arsen S Hunanyan, Ashley R Helseth, Elie Abdelnour, Bassil Kherallah, Monisha Sachdev, Leeyup Chung, Melanie Masoud, Jordan Richardson, Qiang Li, J Victor Nadler, Scott D Moore, Mohamad A Mikati
OBJECTIVE: Na+ /K+ -ATPase dysfunction, primary (mutation) or secondary (energy crisis, neurodegenerative disease) increases neuronal excitability in the brain. To evaluate the mechanisms underlying such increased excitability we studied mice carrying the D801N mutation, the most common mutation causing human disease, specifically alternating hemiplegia of childhood (AHC) including epilepsy. Because the gene is expressed in all neurons, particularly γ-aminobutyric acid (GABA)ergic interneurons, we hypothesized that the pathophysiology would involve both pyramidal cells and interneurons and that fast-spiking interneurons, which have increased firing rates, would be most vulnerable...
June 11, 2018: Epilepsia
Péter Papp, Zsolt Kovács, Péter Szocsics, Gábor Juhász, Zsófia Maglóczky
Recent data from absence epileptic patients and animal models provide evidence for significant impairments of attention, memory, and psychosocial functioning. Here, we outline aspects of the electrophysiological and structural background of these dysfunctions by investigating changes in hippocampal and cortical GABAergic inhibitory interneurons in two genetically absence epileptic rat strains: the Genetic Absence Epilepsy Rats from Strasbourg (GAERS) and the Wistar Albino Glaxo/Rijswijk (WAG/Rij) rats. Using simultaneously recorded field potentials from the primary somatosensory cortex (S1 cortex, seizure focus) and the hippocampal hilus, we demonstrated that typical frequencies of spike-wave discharges (SWDs; 7-8 Hz, GAERS; 7-9 Hz, WAG/Rij) and their harmonics appeared and their EEG spectral power markedly increased on recordings not only from the S1 cortex, but also from the hilus in both GAERS and WAG/Rij rats during SWDs...
May 31, 2018: Epilepsy Research
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