The wide spectrum of tubulinopathies: what are the key features for the diagnosis?

Bahi‐Buisson, Nadia; Poirier, Karine; J. Fourniol, Franck; Saillour, Yoann; Valence, Stéphanie; Lebrun, Nicolas; Hully, Marie; Fallet Bianco, Catherine; Boddaert, Nathalie; Elie, Caroline; Lascelles, Karine; Souville, Isabelle; Beldjord, Chérif; Chelly, Jamel

doi:10.1093/brain/awu082

Public

The wide spectrum of tubulinopathies: what are the key features for the diagnosis?

Published in Brain • May 22, 2014

Authors:

Nadia Bahi‐Buisson

Karine Poirier

Franck J. Fourniol

Abstract

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 corti...

Subject

Key (lock)

Spectrum (functional analysis)

Computer science

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