Electrophysiological features: The next precise step for SCN2A developmental epileptic encephalopathy-Reference-Cited by-同舟云学术

Electrophysiological features: The next precise step for SCN2A developmental epileptic encephalopathy

Published:2020-05-13 Issue:7 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Miao Pu¹^ORCID,Tang Siyang²,Ye Jia²,Wang Jianda¹,Lou Yuting¹,Zhang Bijun¹,Xu Xiaoxiao¹,Chen Xiaoquan¹,Li Yuezhou²,Feng Jianhua¹

Affiliation:

1. Second Affiliated Hospital Zhejiang University School of Medicine Hangzhou China

2. Children’s Hospital and Department of Biophysics, National Clinical Research Center for Child Health, NHC and CAMS Key Laboratory of Medical Neurobiology Zhejiang University School of Medicine Hangzhou China

Funder

National Natural Science Foundation of China

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1250

Reference41 articles.

1. Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes

2. Opposing Effects on Na V 1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile Seizures

3. SCN1A gain of function in early infantile encephalopathy

4. Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms of SCN2A epilepsy

5. Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach

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