| Description | Protein which, if defective, causes lissencephaly, a brain malformation characterized by the absence (agyria) or reduction (pachygyria) of brain surface convolutions (gyri), in association with abnormal organisation of the cortical layers. It results from neuronal migration defects during embryogenesis. Two large groups can be distinguished: classical lissencephaly (and its variants) and cobblestone lissencephaly. Lissencephaly means "smooth brain" |
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