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Article

Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome.

American journal of medical genetics. Part A - 1 Oct 2010

Jamal Seema M, Basran Raveen K, Newton Stephanie, Wang Zhenyuan, Milunsky Jeff M

Abstract excerpt

Epilepsy and Mental Retardation Limited to Females (EFMR) [OMIM 300088] was first described in 1971 [Juberg and Hellman, 1971] in 15 related females with early onset grand mal seizures and mental retardation. Although EFMR demonstrates X-linked inheritance, it follows an unusual pattern by sparing transmitting males and affecting only heterozygous females. In 2008, mutations within the protocadherin 19 (PCDH19)...

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Identifiers

PMID: 20830798
DOI: 10.1002/ajmg.a.33611

Genes

PCDH19

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome.PMID 20830798Read ↗

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PCDH19 mutations in female patients from Southern Italy.Semantic proximity Read ↗

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

Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.Semantic proximity Read ↗

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.Semantic proximity Read ↗

PCDH19-related epilepsy: a rare but recognisable clinical syndrome in females.Semantic proximity Read ↗

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