Pathogenic significance of SCN1A splicing variants causing Dravet syndrome: Improving diagnosis with targeted sequencing for variants by in silico analysis-Reference-Cited by-同舟云学术

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Pathogenic significance of SCN1A splicing variants causing Dravet syndrome: Improving diagnosis with targeted sequencing for variants by in silico analysis

Published:2018-03 Issue: Volume:166 Page:80-90
ISSN:0303-8467
Container-title:Clinical Neurology and Neurosurgery
language:en
Short-container-title:Clinical Neurology and Neurosurgery

Author:

Mahdieh Nejat,Mikaeeli Sepideh,Badv Reza Shervin,Shirazi Azadeh Gharehzadeh,Maleki Majid,Rabbani Bahareh

Funder

Growth and Development Research, Tehran University of Medical Sciences

Genetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences

Publisher

Elsevier BV

Subject

Neurology (clinical),General Medicine,Surgery

Reference78 articles.

1. Les epilepsies graves de l’enfant;Dravet;Vie méd,1978

2. Epidemiology of severe myoclonic epilepsy of infancy;Hurst;Epilepsia,1990

3. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE commission on classification and terminology, 2005–2009;Berg;Epilepsia,2010

4. Sodium channel SCN1A and epilepsy: mutations and mechanisms;Escayg;Epilepsia,2010

5. Localization of voltage-gated ion channels in mammalian brain;Trimmer;Annu. Rev. Physiol.,2004

Cited by 2 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. Common genes and recurrent causative variants in 957 Asian patients with pediatric epilepsy;Epilepsia;2023-12-22

2. Genetic and phenotypic characteristics of SCN1A-related epilepsy in Chinese children;NeuroReport;2019-06-12

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