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Article

PCDH19-related epilepsy is associated with a broad neurodevelopmental spectrum.

Epilepsia - 1 Mar 2018

Smith Lacey, Singhal Nilika, El Achkar Christelle M, Truglio Gessica, Rosen Sheidley Beth, Sullivan Joseph, Poduri Annapurna

Abstract excerpt

OBJECTIVE: To characterize the features associated with PCDH19-related epilepsy, also known as "female-limited epilepsy." METHODS: We analyzed data from participants enrolled in the PCDH19 Registry, focusing on the seizure-related, developmental, neurobehavioral, and sleep-related features. We evaluated variants for pathogenicity based on previous reports, population databases, and in silico predictions, and...

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Source

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Identifiers

PMID: 29377098
DOI: 10.1111/epi.14003
PMCID: PMC6264912

Genes

PCDH19

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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