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[DCX-associated lissencephaly].

R G Gamirova^1,2, Yu I Sidorova¹, Yu R Yulbarisova¹

¹Kazan (Volga region) Federal University, Kazan, Russia.

Zhurnal Nevrologii I Psikhiatrii Imeni S.S. Korsakova

|May 14, 2026

Summary

This summary is machine-generated.

This study details a boy with lissencephaly caused by a DCX gene mutation, identified via next-generation sequencing. The findings highlight common symptoms like epilepsy and intellectual disability in DCX-associated lissencephaly.

Keywords:

DCX doublecortin electroencephalography lissencephaly magnetic resonance imaging pachygyria

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Area of Science:

Neuroscience
Genetics
Clinical Medicine

Background:

Lissencephaly is a brain malformation characterized by a smooth cerebral cortex.
Mutations in the Doublecortin (DCX) gene are a known cause of X-linked lissencephaly and subcortical band heterotopia.
Understanding the genotype-phenotype correlation is crucial for diagnosis and management.

Purpose of the Study:

To present a clinical case of lissencephaly associated with a pathogenic DCX gene mutation.
To systematically review the clinical, neuroimaging, and neurophysiological features of DCX-associated lissencephaly.
To correlate molecular findings with clinical presentation.

Main Methods:

A clinical case of a boy with lissencephaly was investigated.
Molecular genetic testing using next-generation sequencing (NGS) identified a pathogenic DCX gene mutation.
A systematic literature review was conducted using PubMed and Google Scholar, adhering to the PRISMA protocol.

Main Results:

The patient presented with lissencephaly and a pathogenic DCX mutation.
Neuroimaging revealed characteristic brain abnormalities.
Electroencephalography showed epileptic activity.
The systematic review identified subcortical band heterotopia, epilepsy, and intellectual disability as common clinical symptoms.

Conclusions:

The DCX gene is a significant cause of lissencephaly with specific clinical manifestations.
NGS is an effective tool for diagnosing DCX-related brain malformations.
Early identification of DCX mutations aids in predicting disease course and managing symptoms like epilepsy.