Severe epilepsy resulting from genetic interaction between Scn2a and Kcnq2-Reference-Cited by-同舟云学术

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Severe epilepsy resulting from genetic interaction between Scn2a and Kcnq2

Published:2006-02-07 Issue:6 Volume:15 Page:1043-1048
ISSN:1460-2083
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Kearney Jennifer A.,Yang Yan,Beyer Barbara,Bergren Sarah K.,Claes Lieve,DeJonghe Peter,Frankel Wayne N.

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/15/6/1043/17243305/ddl019.pdf

Reference22 articles.

1. Turnbull, J., Lohi, H., Meisler, M.H., Kearney, J.A. and Minassian, B.A. (2005) Sacred disease secrets revealed: the genetics of human epilepsy. Hum. Mol. Genet., 14, 2491–2500.

2. Meisler, M.H. and Kearney, J.A. (2005) Sodium channel mutations in epilepsy and other neurological disorders. J. Clin. Invest., 115, 2010–2017.

3. Claes, L., Del-Favero, J., Ceulemans, B., Lagae, L., Van Broeckhoven, C. and De Jonghe, P. (2001) De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am. J. Hum. Genet., 68, 1327–1332.

4. Kearney, J.A., Plummer, N.W., Smith, M.R., Kapur, J., Cummins, T.R., Waxman, S.G., Goldin, A.L. and Meisler, M.H. (2001) A gain-of-function mutation in the sodium channel gene Scn2a results in seizures and behavioral abnormalities. Neuroscience, 102, 307–317.

5. Lossin, C., Wang, D.W., Rhodes, T.H., Vanoye, C.G. and George, A.L., Jr (2002) Molecular basis of an inherited epilepsy. Neuron, 34, 877–884.

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1. Gene–gene interaction network analysis indicates CNTN2 is a candidate gene for idiopathic generalized epilepsy;Neurogenetics;2024-03-09

2. Integrative analysis of epilepsy-associated genes reveals expression-phenotype correlations;Scientific Reports;2024-02-13

3. A novel SCN8A variant of unknown significance in pediatric epilepsy: a case report;Journal of International Medical Research;2023-07

4. Integrative Analysis of Epilepsy-Associated Genes Reveals Expression-Phenotype Correlations;2023-06-11

5. Strain-dependent effects on neurobehavioral and seizure phenotypes inScn2a^K1422Emice;2023-06-07

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