A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy-Reference-Cited by-同舟云学术

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A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy

Published:1995-10 Issue:2 Volume:11 Page:201-203
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Steinlein Ortrud K.,Mulley John C.,Propping Peter,Wallace Robyn H.,Phillips Hilary A.,Sutherland Grant R.,Scheffer Ingrid E.,Berkovic Samuel F.

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng1095-201.pdf

Reference33 articles.

1. Hauser, W.A., Annegers, J.F. & Kurland, L.T. Incidence of epilepsy and unprovoked seizures in Rochester, Minnesota: 1935 to 1984. Epilepsia 34, 453–468 (1993).

2. Commission on classification and terminology of the international league against epilepsy. Epilepsia 30, 389–399 (1989).

3. Shoffner, J.M. et al. Myoclonic epilepsy and ragged-red fibers (MERRF) is associated with a mitochondrial DNA tRNALys mutation. Cell 61, 931–937 (1990).

4. Koide, R. et al. Unstable expansion of CAG repeat in hereditary dentatorubral-pallidolusian atrophy (DRPLA). Nature Genet. 6, 9–13 (1994).

5. Greenberg, D.A. et al. Juvenile myoclonus epilepsy (JME) linked to the BF and HLA loci on human chromosome 6. Am. J. med. Genet. 31, 185–192 (1988).

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