Article
De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria.
Journal of child neurology - 1 Jan 2017
Rodan Lance H, El Achkar Christelle Moufawad, Berry Gerard T, Poduri Annapurna, Prabhu Sanjay P, Yang Edward, Anselm Irina
Abstract excerpt
TUBB2A is a gene that has recently been reported in association with structural brain abnormalities. Only 3 cases have been reported to date with disparate brain morphologic abnormalities, although all patients have presented with developmental delay and infantile-onset epilepsy. We report a fourth patient with a de novo variant in TUBB2A that is predicted to be pathogenic, presenting with developmental delay,...
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