TheSCN1AMutation Database: Updating Information and Analysis of the Relationships among Genotype, Functional Alteration, and Phenotype-Reference-Cited by-同舟云学术

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TheSCN1AMutation Database: Updating Information and Analysis of the Relationships among Genotype, Functional Alteration, and Phenotype

Published:2015-04-13 Issue:6 Volume:36 Page:573-580
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Meng Heng¹²,Xu Hai-Qing¹,Yu Lu¹,Lin Guo-Wang¹,He Na¹,Su Tao¹,Shi Yi-Wu¹,Li Bin¹,Wang Jie¹,Liu Xiao-Rong¹,Tang Bin¹,Long Yue-Sheng¹,Yi Yong-Hong¹,Liao Wei-Ping¹

Affiliation:

1. Institute of Neuroscience and The Second Affiliated Hospital of Guangzhou Medical University; Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China; Guangzhou China

2. Department of Neurology; The First Affiliated Hospital of Jinan University; Guangzhou China

Funder

National Natural Science Foundation of China

Science and Technology Project of Guangzhou

Department of Education of GuangDong Province

Research Fund for the Doctoral Program of Guangzhou Medical University

Yangcheng Scholar Research Project of Guangzhou Municipal College

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22782/fullpdf

Reference45 articles.

1. PGD for germline mosaicism;Altarescu;Reprod Biomed Online,2012

2. Mosaicism of a missense SCN1A mutation and Dravet syndrome in a Roma/Gypsy family;Azmanov;Epileptic Disord,2010

3. Self-limited hyperexcitability: functional effect of a familial hemiplegic migraine mutation of the Nav1.1 (SCN1A) Na+ channel;Cestele;J Neurosci,2008

4. Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy;Ceulemans;Pediatr Neurol,2004

5. Electrophysiological differences between the same pore region mutation in SCN1A and SCN3A;Chen;Mol Neurobiol,2014

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