Transcriptional channelopathies: An emerging class of disorders
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Neuroscience
Link
http://www.nature.com/articles/35090026.pdf
Reference96 articles.
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2. Escayg, A. et al. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nature Genet. 24, 343–345 (2000).
3. Kearney, J. A. et al. A gain-of-function in the sodium channel gene Scn2a results in seizures and behavioral abnormalities. Neuroscience 102, 307–317 (2001).
4. Sugawara, T. et al. A missense mutation of the Na+ channel αII subunit gene Nav1.2 in a patient with febrile and afebrile seizures causes channel dysfunction. Proc. Natl Acad. Sci. USA 98, 6384–6389 (2001).
5. Newsom-Davis, J. Autoantibody-mediated channelopathies at the neuromuscular junction. Neuroscientist 3, 337–346 (1997).
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