Characteristics of KCNQ 2 variants causing either benign neonatal epilepsy or developmental and epileptic encephalopathy-Reference-Cited by-同舟云学术

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Characteristics of KCNQ 2 variants causing either benign neonatal epilepsy or developmental and epileptic encephalopathy

Published:2019-08-16 Issue:9 Volume:60 Page:1870-1880
ISSN:0013-9580
Container-title:Epilepsia
language:en
Short-container-title:Epilepsia

Author:

Goto Ayako¹^ORCID,Ishii Atsushi¹^ORCID,Shibata Mami²,Ihara Yukiko¹,Cooper Edward C.³,Hirose Shinichi¹²

Affiliation:

1. Department of Pediatrics School of Medicine Fukuoka University Fukuoka Japan

2. Central Research Institute for the Molecular Pathomechanisms of Epilepsy Fukuoka University Fukuoka Japan

3. Department of Neurology Baylor College of Medicine Houston Texas

Funder

Japan Agency for Medical Research and Development

National Institute of Neurological Disorders and Stroke

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/epi.16314

Reference29 articles.

1. Genetics of Idiopathic Epilepsies

2. A de novo KCNQ2 mutation detected in non-familial benign neonatal convulsions

3. Clinical spectrum of early onset epileptic encephalopathies caused byKCNQ2mutation

4. Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2

5. KCNQ2 and KCNQ3 Potassium Channel Subunits: Molecular Correlates of the M-Channel

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1. Plural molecular and cellular mechanisms of pore domain KCNQ2 encephalopathy;2024-08-27

2. Plural molecular and cellular mechanisms of pore domain KCNQ2 encephalopathy;2024-08-27

3. Clinical and genetic analysis of 23 Chinese children with epilepsy associated with KCNQ2 gene mutations;Epilepsia Open;2024-08-14

4. KCNQ2 mutations cause unique neonatal behavior arrests without motor seizures: Functional characterization;Epilepsy & Behavior;2024-07

5. Novel KCNQ2 missense variant expands the genotype spectrum of DEE7;Neurological Sciences;2024-06-17

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