Genetic linkage study of an autosomal recessive form of juvenile myoclonic epilepsy in a consanguineous Tunisian family

Samia Layouni, Annick Salzmann, Michel Guipponi, Dominique Mouthon, Lotfi Chouchane, Mohamed Dogui, Alain Malafosse

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

Juvenile myoclonic epilepsy (JME) is the most common idiopathic generalized epilepsies (IGEs), affecting 12-30% of all epilepsies in medical centers. To date genetic linkage studies have revealed putative loci on different chromosomes, but these findings are still inconclusive about which gene precisely is responsible for the disease. Here, we report the genetic and clinical analysis of a (JME) consanguineous Tunisian family with four affected children out of eight. A genome-wide search was carried out by using the Affymetrix GeneChip Mapping 500K NspI chip. Pairewise logarithm of the odds (LOD) scores were calculated with MERLIN (1.1) assuming an autosomal recessive model, and a complementary homozygous mapping analysis was performed with AutoSNPa software. The genome-wide parametric linkage analysis showed suggestive linkage to chromosome 2q. Interactive visual analysis of SNP data using AutoSNPa revealed two large regions of shared homozygosity by descent on 2q23.3 and on 2q24.1. We decided to sequence the exons of the two genes coding for such proteins located in 2q23.3, CACNB4 and 2q24.1, KCNJ3. No nucleotide variation - comprising the previously reported mutations - was detected.

Original languageEnglish
Pages (from-to)33-38
Number of pages6
JournalEpilepsy Research
Volume90
Issue number1-2
DOIs
Publication statusPublished - Jun 2010

Fingerprint

Juvenile Myoclonic Epilepsy
Genetic Linkage
Chromosomes
Genome
Genes
Single Nucleotide Polymorphism
Exons
Epilepsy
Software
Nucleotides
Mutation
Proteins

Keywords

  • CACNB4
  • Genetic linkage analysis
  • Genome wide scan
  • JME
  • KCNJ3
  • Tunisian family

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

Genetic linkage study of an autosomal recessive form of juvenile myoclonic epilepsy in a consanguineous Tunisian family. / Layouni, Samia; Salzmann, Annick; Guipponi, Michel; Mouthon, Dominique; Chouchane, Lotfi; Dogui, Mohamed; Malafosse, Alain.

In: Epilepsy Research, Vol. 90, No. 1-2, 06.2010, p. 33-38.

Research output: Contribution to journalArticle

Layouni, Samia ; Salzmann, Annick ; Guipponi, Michel ; Mouthon, Dominique ; Chouchane, Lotfi ; Dogui, Mohamed ; Malafosse, Alain. / Genetic linkage study of an autosomal recessive form of juvenile myoclonic epilepsy in a consanguineous Tunisian family. In: Epilepsy Research. 2010 ; Vol. 90, No. 1-2. pp. 33-38.
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