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Article

PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variant.

American journal of medical genetics. Part A - 1 Jun 2016

Thiffault Isabelle, Farrow Emily, Smith Laurie, Lowry Jennifer, Zellmer Lee, Black Benjamin, Abdelmoity Ahmed, Miller Neil, Soden Sarah, Saunders Carol

Abstract excerpt

Variants in the X-linked gene PCDH19 are associated with early infantile epileptic encephalopathy-9. This unusual condition spares hemizygous males except for psychiatric and behavioral abnormalities, and for this reason is also known as female limited epilepsy. Some cases are due to de novo PCDH19 variants, but may also be paternally inherited. Our patient is a 6-year-old male with epileptic encephalopathy....

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Source

Identifiers

PMID: 27016041
DOI: 10.1002/ajmg.a.37617

Genes

PCDH19

Variants

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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