Epilepsy phenotype associated with a chromosome 2q24.3 deletion involving SCN1A: Migrating partial seizures of infancy or atypical Dravet syndrome?-Reference-Cited by-同舟云学术

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Epilepsy phenotype associated with a chromosome 2q24.3 deletion involving SCN1A: Migrating partial seizures of infancy or atypical Dravet syndrome?

Published:2015-01 Issue: Volume:109 Page:34-39
ISSN:0920-1211
Container-title:Epilepsy Research
language:en
Short-container-title:Epilepsy Research

Author:

Lim Byung Chan,Hwang Hee,Kim Hunmin,Chae Jong-Hee,Choi Jieun,Kim Ki Joong,Hwang Yong Seung,Yum Mi-Sun,Ko Tae-Sung

Funder

Korean Health Technology R&D Project, Ministry of Health & Welfare, Republic of Korea

Asan Institute for Life Sciences, Seoul, Korea

Publisher

Elsevier BV

Subject

Clinical Neurology,Neurology

Reference18 articles.

1. De novo SCN1A mutations in migrating partial seizures of infancy;Carranza Rojo;Neurology,2011

2. Malignant migrating partial seizures in infancy: an epilepsy syndrome of unknown etiology;Coppola;Epilepsia,2009

3. Deletion of the SCN gene cluster on 2q24.4 is associated with severe epilepsy: an array-based genotype–phenotype correlation and a comprehensive review of previously published cases;Davidsson;Epilepsy Res.,2008

4. Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients;Depienne;J. Med. Genet.,2009

5. The core Dravet syndrome phenotype;Dravet;Epilepsia,2011

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2. ILAE Genetic Literacy Series: Postmortem Genetic Testing in Sudden Unexpected Death in Epilepsy;Epileptic Disorders;2023-07-04

3. Gain of function SCN1A disease‐causing variants: Expanding the phenotypic spectrum and functional studies guiding the choice of effective antiseizure medication;Epilepsia;2023-01-26

4. Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature;Journal of Autism and Developmental Disorders;2022-12-11

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