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Brain malformations and mutations in α- and β-tubulin genes: a review of the literature and description of two new cases.

Developmental medicine and child neurology - 1 Apr 2014

Romaniello Romina, Arrigoni Filippo, Cavallini Anna, Tenderini Erika, Baschirotto Cinzia, Triulzi Fabio, Bassi Maria-Teresa, Borgatti Renato

Abstract excerpt

AIM: The aim of this study was to determine the frequency of mutations in tubulin genes (TUBB2B, TUBA1A, and TUBB3) in patients with malformations of cortical development (MCDs) of unknown origin. METHOD: In total, 79 out of 156 patients (41 males, 38 females; age range 8mo-55y (mean age 13y 3mo, SD 11y 2mo) with a neuroradiological diagnosis of MCDs were enrolled in the study. The 77 excluded patients were...

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Source

Identifiers

PMID: 24392928
DOI: 10.1111/dmcn.12370

Genes

TUBB3

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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