Mutation analysis of the inwardly rectifying K+ channels KCNJ6 (GIRK2) and KCNJ3 (GIRK1) in juvenile myoclonic epilepsy

Kerstin Hallmann, Martina Durner, Thomas Sander, Ortrud K. Steinlein

Research output: Contribution to journalArticlepeer-review

16 Scopus citations

Abstract

Genetic factors play a major role in the etiology of idiopathic generalized epilepsy. However, in most syndromes, especially the common ones, multiple genetic factors seem to be involved. Mutations in K+ channel genes have previously found to be associated with epilepsy both in humans and in mice. The weaver mice phenotype, characterized by ataxia, tremor, male infertility, and tonic-clonic seizures, is caused by a point mutation in the inwardly rectifier K+ channel gene KCNJ6 (GIRK2). A knockout mouse model deprived of functional KCNJ6 protein is susceptible to spontaneous and provoked seizures without showing the histological signs of neuronal cell death found in the weaver mouse. Thus, the KCNJ6 gene seems to play an important role in seizure control. We therefore performed a mutation analysis of KCNJ6 and the related KCNJ3 gene in 38 patients with juvenile myoclonic epilepsy (JME). Two novel same-sense nucleotide exchanges were identified, but none of these changed the coding sequence. These results do not support a major role for the KCNJ6/KCNJ3 heteromeric receptor in the etiology of JME. (C) 2000 Wiley-Liss, Inc.

Original languageEnglish
Pages (from-to)8-11
Number of pages4
JournalAmerican Journal of Medical Genetics, Part B: Neuropsychiatric Genetics
Volume96
Issue number1
DOIs
StatePublished - 7 Feb 2000

Keywords

  • Idiopathic epilepsy
  • Mouse model
  • Potassium channel

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