Mapping of genes predisposing to idiopathic generalized epilepsy

F. Zara, A. Bianchi, G. Avanzini, S. Di Donato, B. Castellotti, P. I. Patel, M. Pandolfo

Research output: Contribution to journalArticle

115 Citations (Scopus)

Abstract

Idiopathic generalized epilepsy (IGE) is characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Twin and family studies suggest that genetic factors play a key part in IGE. A multilocus model appears to best fit the observed inheritance patterns. Mapping of ICE-related genes has been previously attempted using parametric methods, with conflicting results. In particular, recent evidence argues both for and against a chromosome 6p locus (EJM1) for juvenile myoclonic epilepsy, a subtype of IGE. We have approached the problem of mapping IGE loci using non-parametric methods, which have recently been successful for other complex diseases. No evidence for linkage to chromosome 6p was obtained. However, we obtained evidence for involvement of a locus at chromosome 8q24, close to the marker D8S256. The same 8q24 region was previously implicated in families with benign neonatal familial convulsions (BNFC), a generalized epilepsy syndrome that is inherited as a simple dominant mendelian trait. There is an apparent conserved syntenic group of genes in human 8q24 and a region of mouse chromosome 15, which harbors the stargazer (stg) locus. Homozygous mutant mice at the stg locus show a form of generalized epilepsy that resembles human absence epilepsy. Our findings may have implications for a locus on 8q24 predisposing to IGE.

Original languageEnglish
Pages (from-to)1201-1207
Number of pages7
JournalHuman Molecular Genetics
Volume4
Issue number7
Publication statusPublished - 1995

Fingerprint

Epilepsy
Chromosome Mapping
Chromosomes
Genes
Gene
Locus
Generalized Epilepsy
Chromosome
Benign Neonatal Epilepsy
Juvenile Myoclonic Epilepsy
Chromosomes, Human, Pair 15
Absence Epilepsy
Ports and harbors
Inheritance Patterns
Twin Studies
Brain
Mouse
Seizures
Idiopathic Generalized Epilepsy
Nonparametric Methods

ASJC Scopus subject areas

  • Genetics
  • Statistics, Probability and Uncertainty
  • Applied Mathematics
  • Public Health, Environmental and Occupational Health
  • Molecular Biology
  • Genetics(clinical)

Cite this

Zara, F., Bianchi, A., Avanzini, G., Di Donato, S., Castellotti, B., Patel, P. I., & Pandolfo, M. (1995). Mapping of genes predisposing to idiopathic generalized epilepsy. Human Molecular Genetics, 4(7), 1201-1207.

Mapping of genes predisposing to idiopathic generalized epilepsy. / Zara, F.; Bianchi, A.; Avanzini, G.; Di Donato, S.; Castellotti, B.; Patel, P. I.; Pandolfo, M.

In: Human Molecular Genetics, Vol. 4, No. 7, 1995, p. 1201-1207.

Research output: Contribution to journalArticle

Zara, F, Bianchi, A, Avanzini, G, Di Donato, S, Castellotti, B, Patel, PI & Pandolfo, M 1995, 'Mapping of genes predisposing to idiopathic generalized epilepsy', Human Molecular Genetics, vol. 4, no. 7, pp. 1201-1207.
Zara F, Bianchi A, Avanzini G, Di Donato S, Castellotti B, Patel PI et al. Mapping of genes predisposing to idiopathic generalized epilepsy. Human Molecular Genetics. 1995;4(7):1201-1207.
Zara, F. ; Bianchi, A. ; Avanzini, G. ; Di Donato, S. ; Castellotti, B. ; Patel, P. I. ; Pandolfo, M. / Mapping of genes predisposing to idiopathic generalized epilepsy. In: Human Molecular Genetics. 1995 ; Vol. 4, No. 7. pp. 1201-1207.
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