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Article

Mutation analyses of genes on 6p12-p11 in patients with juvenile myoclonic epilepsy.

Neuroscience letters - 11 Sept 2006

Suzuki Toshimitsu, Delgado-Escueta Antonio V, Alonso Maria E, Morita Ryoji, Okamura Nami, Sugimoto Yoshihisa, Bai Dongsheng, Medina Marco T, Bailey Julia N, Rasmussen Astrid, Ramos-Peek Jaime, Cordova Sergio, Rubio-Donnadieu Francisco, Ochoa Adriana, Jara-Prado Aurelio, Inazawa Johji, Yamakawa Kazuhiro

Abstract excerpt

Juvenile myoclonic epilepsy (JME) is a distinct form of idiopathic generalized epilepsy (IGE). One of the candidate regions for human JME has been mapped on chromosome band 6p11-p12 by linkage analyses and is termed EJM1 (MIM 254770). Recently, we reported the reduction of the EJM1 region to 3.5cM that contains 18 genes, the exclusion of three genes (LRRC1, GCLC, KIAA0057) by mutation analyses, and the...

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Topics

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Share to Chromosomes, Human, Pair 6
Share to PKHD1 gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to In Situ Hybridization, Fluorescence

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Source

Identifiers

PMID: 16876319
DOI: 10.1016/j.neulet.2006.06.038

Genes

EFHC1
PKHD1
FBXO9
GCLC
GSTA3
GSTA4
MCM3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mutation analyses of genes on 6p12-p11 in patients with juvenile myoclonic epilepsy.PMID 16876319Read ↗

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EFHC1 gene mutation profile of Turkish JME patients and its association with disease risk.Semantic proximity Read ↗

Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy.Semantic proximity Read ↗

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The quest for juvenile myoclonic epilepsy genes.Semantic proximity Read ↗

Refined mapping of the epilepsy susceptibility locus EJM1 on chromosome 6.Semantic proximity Read ↗

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