Nucleic acids encoding sodium channel scn1a alpha subunit proteins and mutations associated with epilepsy

作者: Ronald G. Lafrenière , Daniel Rochefort , Guy A. Rouleau

DOI:

关键词:

摘要: The present invention relates to epilepsy. More particularly, the idiopathic generalized epilepsy (IGE) and identification of three genes mapping chromosome 2, which show mutations in patients with further nucleic acid sequences, protein sequences these loci (SCNA) use thereof assess, diagnose, prognose or treat epilepsy, predict an epileptic individual's response medication identify agents modulate function SCNA. also provides screening assays using SCN1A, SCN2A and/or SCN3A can compounds have therapeutic benefit for related neurological disorders.

参考文章(107)
Gabor Gyapay, Jean Morissette, Alain Vignal, Colette Dib, Cécile Fizames, Philippe Millasseau, Sophie Marc, Giorgio Bernardi, Mark Lathrop, Jean Weissenbach, The 1993-94 Généthon human genetic linkage map. Nature Genetics. ,vol. 7, pp. 246- 339 ,(1994) , 10.1038/NG0694SUPP-246
C Barker-Cummings, N Risch, R Ottman, J H Lee, W A Hauser, Segregation analysis of cryptogenic epilepsy and an empirical test of the validity of the results American Journal of Human Genetics. ,vol. 60, pp. 667- 675 ,(1997)
Jerome Engel, Timothy A Pedley, Jean Aicardi, None, Epilepsy : a comprehensive textbook Lippincott Williams & Wilkins. ,(2008)
Margaret A. Lennox, William Gordon. Lennox, Epilepsy and related disorders Little Brown. ,(1960)
Andrew Escayg, Bryan T. MacDonald, Miriam H. Meisler, Stéphanie Baulac, Gilles Huberfeld, Isabelle An-Gourfinkel, Alexis Brice, Eric LeGuern, Bruno Moulard, Denys Chaigne, Catherine Buresi, Alain Malafosse, Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nature Genetics. ,vol. 24, pp. 343- 345 ,(2000) , 10.1038/74159
Lakshmi Sangameswaran, Paul Shartzer Dietrich, Ronald Charles Herman, Stephen Gregory Delgado, Linda Marie Fish, Cloned tetrodotoxin-sensitive sodium channel α-subunit and a splice variant thereof ,(1998)
V. Elving Anderson, Genetic Basis of the Epilepsies ,(1982)