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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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ARFGEF2-Related Periventricular Nodular Heterotopia: A Case Report and Literature Review

Luca Andreoli1,2, Davide Caputo3, Fabio M Doniselli4

  • 1Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.

Neurosci
|May 27, 2026
PubMed
Summary

ARFGEF2-related disorder, a cause of periventricular nodular heterotopia (PVNH), is linked to progressive microcephaly. Early genetic diagnosis is crucial for managing this rare brain malformation and its complications.

Keywords:
ARFGEF2child neurologyepilepsyperiventricular nodular heterotopia

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