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

Cognitive and behavioral profile in females with epilepsy with PDCH19 mutation: two novel mutations and review of the literature.

Epilepsy & behavior : E&B - 1 May 2012

Camacho Ana, Simón Rogelio, Sanz Raúl, Viñuela Antonio, Martínez-Salio Antonio, Mateos Fernando

Abstract excerpt

Mutation in the protocadherin 19 (PCDH19) gene is an increasingly recognized cause of epilepsy in females. This disorder is frequently associated with mental retardation and psychiatric features. We describe two unrelated females with novel PCDH19 missense mutations. One was de novo, and the other was inherited from her unaffected father. Both had mild mental impairment but had remarkable behavioral problems. We...

Read the complete abstract on PubMed

Topics

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

Share to Behavioral Symptoms
Share to Cadherins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cognition Disorders

Share to Epilepsy

Share to Neuropsychological Tests

Share to Protocadherins

Share to Psychiatric Status Rating Scales

Share to Young Adult

Source

Identifiers

PMID: 22504056
DOI: 10.1016/j.yebeh.2012.02.023

Genes

PCDH19

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Cognitive and behavioral profile in females with epilepsy with PDCH19 mutation: two novel mutations and review of the literature.PMID 22504056Read ↗

Cognitive development in females with PCDH19 gene-related epilepsy.Semantic proximity Read ↗

Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations.Semantic proximity Read ↗

The Broad Clinical Spectrum of Epilepsies Associated With Protocadherin 19 Gene MutationSemantic 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 ↗

Expanding the genetic and clinical characteristics of Protocadherin 19 gene mutations.Semantic proximity Read ↗

A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy.Semantic proximity Read ↗

PCDH19-related epilepsy is associated with a broad neurodevelopmental spectrum.Semantic proximity Read ↗

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

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

A mutation update for the PCDH19 gene causing early-onset epilepsy in females with an unusual expression patternSemantic proximity Read ↗

PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder.Semantic proximity Read ↗

Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy.Semantic proximity Read ↗

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