Post-mortem Characterisation of a Case With an ACTG1 Variant, Agenesis of the Corpus Callosum and Neuronal Heterotopia

Post-mortem Characterisation of a Case With an ACTG1 Variant, Agenesis of the Corpus Callosum and Neuronal Heterotopia

Cytoplasmic Actin Gamma 1 (ACTG1) gene variant are autosomal dominant and can cause CNS anomalies (Baraitser Winter Malformation Syndrome; BWMS). ACTG1 anomalies in offspring include agenesis of the corpus callosum (ACC) and neuronal heterotopia which are ectopic nodules of nerve cells that failed t...

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Bibliographic Details
Main Authors: Regina Vontell, Veena G. Supramaniam, Alice Davidson, Claire Thornton, Andreas Marnerides, Muriel Holder-Espinasse, Suzanne Lillis, Shu Yau, Mattias Jansson, Henrik E. Hagberg, Mary A. Rutherford
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-05-01
Series:Frontiers in Physiology
Subjects:
heterotopia
radial glia
corpus callosum
growth cone
synaptic proteins
Online Access:https://www.frontiersin.org/article/10.3389/fphys.2019.00623/full

Internet

https://www.frontiersin.org/article/10.3389/fphys.2019.00623/full

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