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 Portafilter Basket callosum (ACC) and neuronal heterotopia which are ectopic nodules of nerve cells that failed to migrate appropriately.Subcorti