A De Novo Missense Variant in <i>TUBG2</i> in a Child with Global Developmental Delay, Microcephaly, Refractory Epilepsy and Perisylvian Polymicrogyria

A De Novo Missense Variant in <i>TUBG2</i> in a Child with Global Developmental Delay, Microcephaly, Refractory Epilepsy and Perisylvian Polymicrogyria

Polymicrogyria is a brain malformation characterized by excessive folding of the cortex. To date, numerous causes of polymicrogyria have been identified, including variants in the genes associated with tubulinopathies. Herein, we present a child with severe intellectual disability, refractory to tre...

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Bibliographic Details
Main Authors: Salini Thulasirajah, Xueqi Wang, Erick Sell, Jorge Dávila, David A. Dyment, Kristin D. Kernohan
Format: Article
Language:English
Published: MDPI AG 2022-12-01
Series:Genes
Subjects:
polymicrogyria
tubulinopathy
exome sequencing
Online Access:https://www.mdpi.com/2073-4425/14/1/108

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