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Article

PCDH19 mutations in female patients from Southern Italy.

Seizure - 1 Jan 2015

Gagliardi Monica, Annesi Grazia, Sesta Michela, Tarantino Patrizia, Conti Pasquale, Labate Angelo, Di Rosa Gabriella, Quattrone Aldo, Gambardella Antonio

Abstract excerpt

PURPOSE: Mutations in PCDH19, encoding protocadherin 19 on chromosome X, cause familial epilepsy and mental retardation limited to females or Dravet-like syndrome. We wished to explore the causative role of PCDH19 gene (Xq22) in female patients with epilepsy, from Southern Italy. METHODS: Direct sequencing of PCDH19 gene was conducted in 31 unrelated female patients with early onset (<1 year of age) epilepsy and...

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Source

Identifiers

PMID: 25218114
DOI: 10.1016/j.seizure.2014.08.010

Genes

PCDH19

Variants

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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