A novel inherited SCN1A mutation associated with GEFS+ in benign and encephalopathic epilepsy
Author:
Publisher
Elsevier BV
Subject
Physiology (medical),Neurology (clinical),Neurology,General Medicine,Surgery
Reference7 articles.
1. Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes;Scheffer;Brain,1997
2. Generalised epilepsy with febrile seizures plus (GEFS(+)): molecular analysis in a restricted area;Polizzi;Childs Nerv Syst,2012
3. Impaired inactivation gate stabilization predicts increased persistent current for an epilepsy-associated SCN1A mutation;Kahlig;J Neurosci,2006
4. The SCN1A gene variants and epileptic encephalopathies;Parihar;J Hum Genet,2013
5. The SCN1A mutation database: updating information and analysis of the relationships among genotype, functional alteration, and phenotype;Meng;Hum Mutat,2015
Cited by 3 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. GABRG2 mutations in genetic epilepsy with febrile seizures plus: structure, roles, and molecular genetics;Journal of Translational Medicine;2024-08-14
2. An SCN1A gene missense variant in a Chinese Tujia ethnic family with genetic epilepsy with febrile seizures plus;Frontiers in Neurology;2023-07-27
3. Severe epilepsy phenotype with SCN1A missense variants located outside the sodium channel core region: Relationship between functional results and clinical phenotype;Seizure;2022-10
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