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Article

Identification of four novel PCDH19 Mutations and prediction of their functional impact.

Annals of human genetics - 1 Nov 2014

Leonardi Emanuela, Sartori Stefano, Vecchi Marilena, Bettella Elisa, Polli Roberta, Palma Luca De, Boniver Clementina, Murgia Alessandra

Abstract excerpt

The PCDH19 gene encodes protocadherin-19, a transmembrane protein with six cadherin (EC) domains, containing adhesive interfaces likely to be involved in neuronal connection. Over a hundred mostly private mutations have been identified in girls with epilepsy, with or without intellectual disability (ID). Furthermore, transmitting hemizygous males are devoid of seizures or ID, making it difficult to establish the...

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Source

Identifiers

PMID: 25227595
DOI: 10.1111/ahg.12082

Genes

PCDH19

Provenance

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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