Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures-Reference-Cited by-同舟云学术

Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures

Published:2015-09-03 Issue:1 Volume:6 Page:
ISSN:2041-1723
Container-title:Nature Communications
language:en
Short-container-title:Nat Commun

Author:

Stödberg Tommy,McTague Amy,Ruiz Arnaud J.,Hirata Hiromi,Zhen Juan,Long Philip,Farabella Irene,Meyer Esther,Kawahara Atsuo,Vassallo Grace,Stivaros Stavros M.,Bjursell Magnus K.,Stranneheim Henrik,Tigerschiöld Stephanie,Persson Bengt,Bangash Iftikhar,Das Krishna,Hughes Deborah,Lesko Nicole,Lundeberg Joakim,Scott Rod C.,Poduri Annapurna,Scheffer Ingrid E.,Smith Holly,Gissen Paul^ORCID,Schorge Stephanie,Reith Maarten E. A.,Topf Maya,Kullmann Dimitri M.,Harvey Robert J.,Wedell Anna,Kurian Manju A.

Publisher

Springer Science and Business Media LLC

Subject

General Physics and Astronomy,General Biochemistry, Genetics and Molecular Biology,General Chemistry

Link

http://www.nature.com/articles/ncomms9038.pdf

Reference36 articles.

1. McTague, A. et al. Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum. Brain 136, 1578–1591 (2013).

2. Barcia, G. et al. De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. Nat. Genet. 44, 1255–1259 (2012).

3. Striano, P., Coppola, G., Zara, F. & Nabbout, R. Genetic heterogeneity in malignant migrating partial seizures of infancy. Ann. Neurol. 75, 324–326 (2014).

4. Rivera, C. et al. The K+/Cl- co-transporter KCC2 renders GABA hyperpolarizing during neuronal maturation. Nature 397, 251–255 (1999).

5. Chamma, I., Chevy, Q., Poncer, J. C. & Lévi, S. Role of the neuronal K-Cl co-transporter KCC2 in inhibitory and excitatory neurotransmission. Front. Cell. Neurosci. 6, 1–15 (2012).

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