The human epilepsy mutation GABRG2(Q390X) causes chronic subunit accumulation and neurodegeneration
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Neuroscience
Link
http://www.nature.com/articles/nn.4024.pdf
Reference52 articles.
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2. Heron, S.E. et al. De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin. J. Med. Genet. 47, 137–141 (2010).
3. Shi, X. et al. Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome. Brain Dev. 31, 758–762 (2009).
4. Patino, G.A. et al. A functional null mutation of SCN1B in a patient with Dravet syndrome. J. Neurosci. 29, 10764–10778 (2009).
5. Ogiwara, I. et al. A homozygous mutation of voltage-gated sodium channel beta(I) gene SCN1B in a patient with Dravet syndrome. Epilepsia 53, e200–e203 (2012).
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