What question did this study set out to answer?

The aim is to present a clinical case of lissencephaly caused by a mutation in the DCX gene and review related features.

May 16, 2026

DCX-associated lissencephaly

Key Points

The aim is to present a clinical case of lissencephaly caused by a mutation in the DCX gene and review related features.
Clinical case description of a boy with lissencephaly and DCX mutation confirmed by next-generation sequencing.
Systematic review using PubMed and Google Scholar following the PRISMA protocol on DCX-associated diseases.
Analysis included clinical symptoms, neuroimaging results, and electroencephalography findings.
The DCX mutation was confirmed in a boy with lissencephaly presenting subcortical band heterotopia.
Common symptoms included epilepsy and intellectual disability associated with the DCX gene mutation.
Neuroimaging revealed distinctive features consistent with lissencephaly related to the DCX mutation.

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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Cite This Study

Gamirova et al. (Thu,) studied this question.

synapsesocial.com/papers/6a080ab3a487c87a6a40cb4a https://doi.org/https://doi.org/10.17116/jnevro2026126041150

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