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Article

PACS2 pathogenic variant associated with malformation of cortical development and epilepsy.

Epileptic disorders : international epilepsy journal with videotape - 1 Apr 2024

Checri Rayann, Dozières-Puyravel Blandine, Elmaleh-Bergès Monique, Verloes Alain, Auvin Stéphane

Abstract excerpt

PACS2 pathogenic variants are associated with an autosomal dominant syndrome (OMIM DEE66), associating developmental and epileptic encephalopathy, facial dysmorphism, and cerebellar dysgenesis. However, no malformation of cortical development has been reported yet. We report here a seven-year-old child with a history of infantile epileptic spasm syndrome and a right insular polymicrogyria and pachygyria due to de...

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Identifiers

PMID: 38031819
DOI: 10.1002/epd2.20184

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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