Article
Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria.
Brain & development - 1 Jan 2010
Artuso R, Mencarelli M A, Polli R, Sartori S, Ariani F, Pollazzon M, Marozza A, Cilio M R, Specchio N, Vigevano F, Vecchi M, Boniver C, Dalla Bernardina B, Parmeggiani A, Buoni S, Hayek G, Mari F, Renieri A, Murgia A
Abstract excerpt
BACKGROUND: Rett syndrome is a severe neurodevelopmental disorder affecting almost exclusively females. Among Rett clinical variants, the early-onset seizure variant describes girls with early onset epilepsy and it is caused by mutations in CDKL5. METHODS: Four previously reported girls and five new cases with CDKL5 mutation, ranging from 14 months to 13 years, were evaluated by two clinical geneticists,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.