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Article

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 research - 1 Aug 2001

Moore T, Hecquet S, McLellann A, Ville D, Grid D, Picard F, Moulard B, Asherson P, Makoff A J, McCormick D, Nashef L, Froguel P, Arzimanoglou A, LeGuern E, Bailleul B

Abstract excerpt

Disruption of the function of the mouse jerky gene by transgene insertion causes generalized recurrent seizures reminiscent of human idiopathic generalized epilepsy (IGE). A human homologue, JRK/JH8, has been cloned, which maps to 8q24, a chromosomal region associated with several forms of IGE. J...

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Identifiers

PMID: 11463517
DOI: 10.1016/s0920-1211(01)00275-3

Genes

JRK

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026. Prepared record publication-11463517-2026-08-31.1. Manifest publication-graph-cohort-2026-08-31.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 31 Aug 2026.

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