DCX-associated lissencephaly

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Abstract
We present a clinical case of a boy with lissencephaly and a pathogenic mutation in the DCX gene, detected by a molecular genetic test using next-generation sequencing (NGS). The clinical presentation, cognitive development features, and results of magnetic resonance imaging of the brain and electroencephalography are described. Also, a systematic review of the clinical, neuroimaging, and neurophysiological features of lissencephaly typical for the DCX gene mutation is provided. The citation databases PubMed and Google Scholar were searched for publications on clinical cases of DCX-associated diseases, and papers were selected according to the PRISMA protocol. The most common clinical symptoms are subcortical band heterotopia, epilepsy, and intellectual disability.

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