title: [Epilepsy in chromosome aberrations].
abstract: Epilepsy is among the most frequent finding in many chromosome aberrations. While most chromosome aberrations can be associated with different seizure types, there are few aberrations which feature specific seizures and EEG patterns. Among the 400 different chromosomal imbalances described with seizures and EEG abnormalities, eight have a high association with epilepsy. These comprise: the monosomy 1p36, Wolf-Hirschhorn syndrome (4p-), Angelman syndrome, Miller-Dieker del 17p13.3, the inversion duplication 15 syndrome, ring 20 and ring 14 syndromes, Down's syndrome. These chromosomal regions where aberrations have an evident association with epilepsy may be useful targets for gene hunters. On the other hand, a better characterisation of epileptic syndrome in these disorders may lead to a better and specific treatment.
authors.affiliation: Service de neuropédiatrie et maladies métaboliques, hôpital Necker-Enfants-Malades, assistance-publique-hôpitaux de Paris, 149 rue de Sèvres, 75015 Paris, France. nadia.bahi-buisson@nck.ap-hop-paris.fr
authors.forename: N
authors.initials: N
authors.lastname: Bahi-Buisson
authors.forename: D
authors.initials: D
authors.lastname: Ville
authors.forename: M
authors.initials: M
authors.lastname: Eisermann
authors.forename: P
authors.initials: P
authors.lastname: Plouin
authors.forename: A
authors.initials: A
authors.lastname: Kaminska
authors.forename: C
authors.initials: C
authors.lastname: Chiron
mesh_terms: D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D025063:Chromosome Disorders / Q000150:complications / Q000503:physiopathology*; D004569:Electroencephalography; D004827:Epilepsy / Q000235:genetics* / Q000503:physiopathology*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male