The finding of a new heterozygous mutation site of the SCN2A gene in a monozygotic twin family carrying and exhibiting genetic epilepsy with febrile seizures plus (GEFS+) using targeted next-generation sequencing-Reference-Cited by-同舟云学术

The finding of a new heterozygous mutation site of the SCN2A gene in a monozygotic twin family carrying and exhibiting genetic epilepsy with febrile seizures plus (GEFS+) using targeted next-generation sequencing

Published:2018-06 Issue: Volume:169 Page:86-91
ISSN:0303-8467
Container-title:Clinical Neurology and Neurosurgery
language:en
Short-container-title:Clinical Neurology and Neurosurgery

Author:

Liu Xue-wu,Li Wenna,Han Tao,Wei Kunkun,Qiao Shan,Su Lei,Chi Zhaofu

Funder

National Natural Science Foundation of China

Natural Science Foundation of Shandong Province

Publisher

Elsevier BV

Subject

Neurology (clinical),General Medicine,Surgery

Reference34 articles.

1. Genetic screening of two Tunisian families with generalized epilepsy with febrile seizures plus;Fendri-Kriaa;Eur. J. Neurol.,2009

2. Copy number variants, diseases and gene expression;Henrichsen;Hum. Mol. Genet.,2009

3. Phenotypes and genotypes in epilepsy with febrile seizures plus;Ito;Epilepsy Res.,2006

4. Impaired maturation of cortical GABA(A) receptor expression in pediatric epilepsy;Jansen;Epilepsia,2010

5. Molecular basis of severe myoclonic epilepsy in infancy;Yamakawa;Brain Dev.,2009

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1. GABRG2 mutations in genetic epilepsy with febrile seizures plus: structure, roles, and molecular genetics;Journal of Translational Medicine;2024-08-14

2. The evolving genetic landscape of febrile seizures and GEFS +;Febrile Seizures;2023

3. Mutations in the sodium channel genes SCN1A, SCN3A, and SCN9A in children with epilepsy with febrile seizures plus(EFS+);Seizure;2021-05

4. SCN2A and Its Related Epileptic Phenotypes;Journal of Pediatric Neurology;2021-03-27

5. Whole exome sequencing identifies a novel SCN1A mutation in genetic (idiopathic) generalized epilepsy and juvenile myoclonic epilepsy subtypes;Neurological Sciences;2019-11-13