Article
The wide spectrum of tubulinopathies: what are the key features for the diagnosis?
Brain : a journal of neurology - 1 Jun 2014
Bahi-Buisson Nadia, Poirier Karine, Fourniol Franck, Saillour Yoann, Valence Stéphanie, Lebrun Nicolas, Hully Marie, Bianco Catherine Fallet, Boddaert Nathalie, Elie Caroline, Lascelles Karine, Souville Isabelle, Beldjord Cherif, Chelly Jamel
Abstract excerpt
Complex cortical malformations associated with mutations in tubulin genes: TUBA1A, TUBA8, TUBB2B, TUBB3, TUBB5 and TUBG1 commonly referred to as tubulinopathies, are a heterogeneous group of conditions with a wide spectrum of clinical severity. Among the 106 patients selected as having complex cortical malformations, 45 were found to carry mutations in TUBA1A (42.5%), 18 in TUBB2B (16.9%), 11 in TUBB3 (10.4%),...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.