Mutation analysis of the inwardly rectifying K(+) channels KCNJ6 (GIRK2) and KCNJ3 (GIRK1) in juvenile myoclonic epilepsy.
- Authors
- Hallmann, K; Durner, M; Sander, T; Steinlein, O K
- Year
- 2000
- Journal
- American journal of medical genetics
- PMID
- 10686544
- DOI
- 10.1002/(sici)1096-8628(20000207)96:1<8::aid-ajmg3>3.0.co;2-s
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. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:8-11, 2000
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In this knowledge base
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| A KCNJ6 gene polymorphism modulates theta oscillations during reward processing. | 2017 | 27993610 |
External
| Title | Authors | Journal | Year | Link |
|---|---|---|---|---|
| De novo variants in <i>KCNJ3</i> are associated with early-onset epilepsy. | Li J et al. | — | 2024 | → |
| Envisioning the role of inwardly rectifying potassium (Kir) channel in epilepsy. | Akyuz E et al. | — | 2022 | → |
| GIRK3 deletion facilitates kappa opioid signaling in chondrocytes, delays vascularization and promotes bone lengthening in mice. | Taylor EL et al. | — | 2022 | → |
| A KCNJ6 gene polymorphism modulates theta oscillations during reward processing. | Kamarajan C et al. | — | 2017 | → |
| Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy. | Valetto A et al. | — | 2012 | → |
| Characterization of PTZ-induced seizure susceptibility in a down syndrome mouse model that overexpresses CSTB. | Brault V et al. | — | 2011 | → |
| Two novel cSNPs of weaver gene in Chinese indigenous goat and their associations with milk yield. | Li Z et al. | — | 2010 | → |
| Kir channels in the CNS: emerging new roles and implications for neurological diseases. | Neusch C et al. | — | 2003 | → |
| Deductive genomics: a functional approach to identify innovative drug targets in the post-genome era. | Stumm G et al. | — | 2002 | → |
| Suggestive evidence for association of two potassium channel genes with different idiopathic generalised epilepsy syndromes. | Chioza B et al. | — | 2002 | → |
| Ion channels and epilepsy. | Lerche H et al. | — | 2001 | → |