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Article

Familial dominant epilepsy and mild pachygyria associated with a constitutional LIS1 mutation.

American journal of medical genetics. Part A - 1 Dec 2018

De Vita Dalila, Mei Davide, Rutigliano Domenico, Bartalucci Niccolò, Cinnante Claudia Maria, Parrini Elena, Dilena Robertino, Guerrini Renzo

Abstract excerpt

We describe a mother and son with focal epilepsy, mild cognitive impairment, and pachygyria, which was parieto-occipital in the mother and with remarkable posterior greater than anterior severity in the son. Overall clinical manifestations, although overlapping in type, were likewise slightly more severe in the son. Using targeted resequencing through a gene panel for malformations of cortical development, we...

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PMID: 30144370
DOI: 10.1002/ajmg.a.40503

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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