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Article

A Case Report of PLXNA1-Related Dworschak-Punetha Neurodevelopmental Disorder With Pachygyria and Polymicrogyria.

American journal of medical genetics. Part A - 1 May 2026

Das Niladri, Maurya Rajesh Kumar, Phadke Shubha R, Moirangthem Amita

Abstract excerpt

Plexin-A1 is involved in axonal guidance in the developing human brain. Variants in the PLXNA1 gene are associated with a neurodevelopmental disorder characterized by early-onset epilepsy, intellectual disability, syndromic features, and brain and eye anomalies. We report a 19-month-old boy who presented with global developmental delay, right-sided ptosis, and a growth pattern above the expected range....

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Identifiers

PMID: 41424197
DOI: 10.1002/ajmga.70028

Genes

PLXNA1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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