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Article

[PCDH19 gene mutations lead to epilepsy with mental retardation limited to females in 2 cases and literature review].

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences - 28 Jun 2017

Yang Li, Arafat Ahmed, Peng Jing, Chen Chen, Ma Yuping, Yin Fei

Abstract excerpt

Epilepsy with mental retardation limited to females (EFMR) is a syndrome characterized by early onset heat-sensitive epilepsy of infancy or early childhood and generally limited to females, which previously reported that the cadherin gene superfamily subtype protocadherin 19 (PCDH19) gene is its pathogenic gene. We retrospectively analyzed the clinical data for 2 cases of EFMR patients with PCDH19 mutation...

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Source

Identifiers

PMID: 28690234
DOI: 10.11817/j.issn.1672-7347.2017.06.021

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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