JRK

Species Homo sapiens
Alternate Name(s) JH8
Epilepsy-Associated Disorder(s) childhood absence epilepsy, juvenile myoclonic epilepsy
Description jerky homolog
Chromosome 8
Locus 8q24.3
Mouse Homolog Jrk
Protein Alignment Homo sapiens:

Mus musculus:
Reference(s) Moore T, Hecquet S, McLellann A, Ville D, Grid D, Picard F, Moulard B, Asherson P, Makoff AJ, McCormick D, Nashef L, Froguel P, Arzimanoglou A, LeGuern E, Bailleul B. Polymorphism analysis of JRK/JH8, the human homologue of mouse jerky, and description of a rare mutation in a case of CAE evolving to JME. Epilepsy Res. 2001 Aug;46(2):157-67.

Morita R, Miyazaki E, Fong CY, Chen XN, Korenberg JR, Delgado-Escueta AV, Yamakawa K. JH8, a gene highly homologous to the mouse jerky gene, maps to the region for childhood absence epilepsy on 8q24. Biochem Biophys Res Commun. 1998 Jul 20;248(2):307-14.

Morita R, Miyazaki E, Shah PU, Castroviejo IP, Delgado-Escueta AV, Yamakawa K. Exclusion of the JRK/JH8 gene as a candidate for human childhood absence epilepsy mapped on 8q24. Epilepsy Res. 1999 Nov;37(2):151-8.

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