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Article

PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder.

Human mutation - 1 Apr 2012

Depienne Christel, LeGuern Eric

Abstract excerpt

PCDH19 encodes protocadherin 19 on chromosome Xq22.3. This 1,148-amino-acid protein, highly expressed during brain development, could play significant roles in neuronal migration or establishment of synaptic connections. PCDH19 is composed of six exons, with a large first exon encoding the entire extracellular domain of the protein. Heterozygous PCDH19 mutations were initially identified in epilepsy and mental...

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Source

Identifiers

PMID: 22267240
DOI: 10.1002/humu.22029

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.

Source receipt: pubmed, retrieved 7 Sept 2026.

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PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder.PMID 22267240Read ↗

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

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

Identification of a pathogenic mutation in PCDH19-related female-limited epilepsySemantic proximity Read ↗

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

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