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 Printable version |
Genetic aspects of juvenile myoclonic epilepsy. Preliminary results |
Epilepsies. Volume 13, Number 2, 97-102, Avril - Mai - Juin 2001, Articles originaux
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 Résumé
Article gratuit
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Author(s) : Ph. Gélisse, A. Malafosse, P. Genton, P. Thomas, B. Moulard, M. Baldy-Moulinier |
Summary : Two predisposing factors for juvenile myoclonic epilepsy (JME) have been located on Chr. 6p and 15q, respectively. These results have been confirmed or contradicted by various studies, as a result of persisting doubts about the precise mode of inheritance of JME. Our working hypothesis is that JME is transmitted according to a complex mode of inheritance, and that population based (index cases) and family-based (transmission disequilibrium) studies are best suited. In 1999, a campaign was organized in Southern France to collect index cases and their parents. This work continues previous campaigns while integrating new strategies. We undertook a large clinical evaluation of the phenotype in a consecutive population of 170 JME cases collected in Marseille and Nice (104 women and 66 men, 61 and 39% respectively). A family history of epilepsy was found in 24% of patients in first-degree relatives and in 17% of patients in second-degree relatives. Twelve percent of the patients belonged to multiplex families. Affected first-degree relatives were mostly siblings. A direct transmission of JME or of another form of idiopathic generalized epilepsy was uncommon (29% of the cases), including maternal transmission in 73% of such cases, vs 27% of paternal inheritance. |
Keywords : juvenile myoclonic epilepsy, genetic. |
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