Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

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 sparin...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Birth Weight
Share to Cadherins
Share to Epilepsy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Europe

Share to Gene Amplification

Share to Intellectual Disability

Share to Protocadherins

Share to Sex Characteristics

Source

Identifiers

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

Genes

PCDH19

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20830798-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

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

Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families.Semantic proximity Read ↗

Protocadherin 19 mutations in girls with infantile-onset epilepsySemantic proximity Read ↗

A novel PCDH19 missense mutation, c.812G>A (p.Gly271Asp), identified using whole-exome sequencing in a Chinese family with epilepsy female restricted mental retardation syndrome.Semantic proximity Read ↗

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 ↗

Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders.Semantic proximity Read ↗

A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity.Semantic proximity Read ↗

Male patients affected by mosaic PCDH19 mutations: five new cases.Semantic proximity Read ↗

PCDH19 Pathogenic Variants in Males: Expanding the Phenotypic Spectrum.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.