Genetic modifiers affecting severity of epilepsy caused by mutation of sodium channelScn2a
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics
Link
http://link.springer.com/content/pdf/10.1007/s00335-005-0049-4.pdf
Reference38 articles.
1. Abou-Khalil B, Ge Q, Desai R, Ryther R, Bazyk A, et al. (2001) Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation. Neurology 57:2265–2272
2. Adamska M, MacDonald BT, Meisler MH (2003) Doubleridge, a mouse mutant with defective compaction of the apical ectodermal ridge and normal dorsal-ventral patterning of the limb. Dev Biol 255:350–362
3. Ayyadevara S, Ayyadevara R, Vertino A, Galecki A, Thaden JJ, et al. (2003) Genetic loci modulating fitness and life span in Caenorhabditis elegans: categorical trait interval mapping in CL2a × Bergerac-BO recombinant-inbred worms. Genetics 163:557–570
4. Backman SA, Stambolic V, Suzuki A, Haight J, Elia A, et al. (2001) Deletion of Pten in mouse brain causes seizures, ataxia and defects in soma size resembling Lhermitte-Duclos disease. Nat Genet 29:396–403
5. Buono RJ, Lohoff FW, Sander T, Sperling MR, O’Connor MJ, et al. (2004) Association between variation in the human KCNJ10 potassium ion channel gene and seizure susceptibility. Epilepsy Res 58:175–183
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