Results 1 to 10 of about 6,417 (115)

SCN1A Mutation—Beyond Dravet Syndrome: A Systematic Review and Narrative Synthesis

Frontiers in Neurology, 2021
Background:SCN1A is one of the most common epilepsy genes. About 80% of SCN1A gene mutations cause Dravet syndrome (DS), which is a severe and catastrophic epileptic encephalopathy. More than 1,800 mutations have been identified in SCN1A.
Tao Sun, Jiangwei Ding, Xinxiao Li
exaly   +3 more sources

Association Between SCN1A rs2298771, SCN1A rs10188577, SCN2A rs17183814, and SCN2A rs2304016 Polymorphisms and Responsiveness to Antiepileptic Drugs: A Meta-Analysis

Frontiers in Neurology, 2021
Background:SCN1A and SCN2A genes have been reported to be associated with the efficacy of single and combined antiepileptic therapy, but the results remain contradictory.
Guangjian Li
exaly   +3 more sources

Influence of common SCN1A promoter variants on the severity of SCN1A-related phenotypes

Molecular Genetics & Genomic Medicine, 2019
Background Pathogenic variants in SCN1A cause variable epilepsy disorders with different disease severities. We here investigate whether common variation in the promoter region of the unaffected SCN1A allele could reduce normal expression, leading to a ...
Eva Brilstra, Bobby Koeleman, Wout J Weuring   +2 more
exaly   +2 more sources

Clobazam and Valproate, but Lamotrigine, a Sodium Channel Inhibitor, Reduce the Incidence of Hyperthermia‐Induced Clonic Seizures in Dravet Syndrome Mice: Assessment of Anti‐Seizure Effects in Mice Using a Stabilized Ambient Temperature System [PDF]

Neuropsychopharmacology Reports
Background Dravet syndrome (DS) is a severe and treatment‐resistant epileptic encephalopathy, most commonly caused by de novo mutations in the sodium voltage‐gated channel alpha subunit 1 (SCN1A) gene. Patients with DS often present with febrile seizures.
Futa Sato, Mayuka Nakamura, Megumi Oishi, Yuki Matsuo, Naoki Amada, Takashi Wadatsu, Nobuyoshi Jinnai, Yusuke Kakumoto, Kenji Maeda, Yuki Yamasaki, Takashi Futamura   +10 more
doaj   +2 more sources

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties [PDF]

Annals of Clinical and Translational Neurology
Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity.
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
doaj   +2 more sources

Identification of five novel SCN1A variants

Frontiers in Behavioral Neuroscience, 2023
BackgroundEpilepsy is characterized by recurrent unprovoked seizures. Mutations in the voltage-gated sodium channel alpha subunit 1 (SCN1A) gene are the main monogenic cause of epilepsy.
Baitao Zeng, Baitao Zeng, Haoyi Zhang, Qing Lu, Qing Lu, Qingzi Fu, Qingzi Fu, Yang Yan, Yang Yan, Wan Lu, Wan Lu, Pengpeng Ma, Pengpeng Ma, Chuanxin Feng, Chuanxin Feng, Jiawei Qin, Jiawei Qin, Laipeng Luo, Laipeng Luo, Bicheng Yang, Bicheng Yang, Yongyi Zou, Yongyi Zou, Yanqiu Liu, Yanqiu Liu   +24 more
doaj   +1 more source

A novel rat model of Dravet syndrome recapitulates clinical hallmarks

Neurobiology of Disease, 2023
Dravet syndrome (DS) is a debilitating infantile epileptic encephalopathy characterized by seizures induced by high body temperature (hyperthermia), sudden unexpected death in epilepsy (SUDEP), cognitive impairment, and behavioral disturbances.
Miao Li, Lixin Yang, Weixin Qian, Saikat Ray, Zhonghua Lu, Tao Liu, Ying-Ying Zou, Robert K. Naumann, Hong Wang   +8 more
doaj   +1 more source

Genetics and clinical correlation of Dravet syndrome and its mimics – experience of a tertiary center in Taiwan

Pediatrics and Neonatology, 2021
Background: Dravet syndrome is a severe developmental and epileptic encephalopathy characterized by the onset of prolonged febrile and afebrile seizures in infancy and SCN1A gene mutations.
Yi-Hsuan Liu, Yi-Ting Cheng, Meng-Han Tsai, I-Jun Chou, Po-Cheng Hung, Meng-Ying Hsieh, Yi-Shan Wang, Yun-Ju Chen, Cheng-Yen Kuo, Jainn-Jim Lin, Huei-Shyong Wang, Kuang-Lin Lin   +11 more
doaj   +1 more source

Rescuing epileptic and behavioral alterations in a Dravet syndrome mouse model by inhibiting eukaryotic elongation factor 2 kinase (eEF2K)

Molecular Autism, 2022
Background Dravet Syndrome is a severe childhood pharmaco-resistant epileptic disorder mainly caused by mutations in the SCN1A gene, which encodes for the α1 subunit of the type I voltage-gated sodium channel (NaV1.1), that causes imbalance between ...
Stefania Beretta, Laura Gritti, Luisa Ponzoni, Paolo Scalmani, Massimo Mantegazza, Mariaelvina Sala, Chiara Verpelli, Carlo Sala   +7 more
doaj   +1 more source

Genetic epilepsy with febrile seizures plus – an overview [PDF]

Romanian Journal of Neurology, 2021
Genetic epilepsy with febrile seizures plus (GEFS+) is characterized by a group of genetic epilepsies associated predominately with an autosomal dominant pattern, but also with de novo and autosomal-recessive inheritance, these last two found in a small ...
Madalina Radu, Eugenia Roza, Daniel Mihai Teleanu, Raluca Ioana Teleanu   +3 more
doaj   +1 more source