Article
CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy.
Neurology - 23 Sept 2008
Elia M, Falco M, Ferri R, Spalletta A, Bottitta M, Calabrese G, Carotenuto M, Musumeci S A, Lo Giudice M, Fichera M
Abstract excerpt
OBJECTIVE: To search for CDKL5 gene mutations in boys presenting with severe early-onset encephalopathy and intractable epilepsy, a clinical picture very similar to that already described in girls with CDKL5 mutations. METHODS: Eight boys (age range 3-16 years, mean age 8.5 years, SD 4.38) with severe or profound mental retardation and early-onset intractable seizures were selected for CDKL5 gene mutation...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.