Angelman syndrome: a case series assessing neurological issues in adulthood.

Date publication

janvier 2015

Journal

European neurology

Auteurs

Membres identifiés du Cancéropôle Est :
Pr HUET Frédéric , Pr FAIVRE Laurence , Pr MOULIN Thierry

Tous les auteurs :
Giroud M, Daubail B, Khayat N, Chouchane M, Berger E, Muzard E, Medeiros de Bustos E, Thauvin-Robinet C, Faivre L, Masurel A, Darmency-Stamboul V, Huet F, Béjot Y, Giroud M, Moulin T

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/25472600

Résumé

This study aimed to evaluate the clinical symptoms of Angelman syndrome (AS) in adults and to identify the neurological pathways affected in this disease. AS is a neurogenetic disorder resulting due to the deletion or inactivation of the ubiquitin-protein-ligase E3A gene on maternal chromosome 15.

Mots clés

Adolescent, Adult, Angelman Syndrome, complications, Electroencephalography, methods, Female, Humans, Male, Retrospective Studies

Référence

Eur. Neurol.. 2015 ;73(1-2):119-25