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Article

A novel PCDH19 mutation inherited from an unaffected mother.

Pediatric neurology - 1 Jun 2012

Dimova Petia S, Kirov Andrey, Todorova Albena, Todorov Tihomir, Mitev Vanyo

Abstract excerpt

We report on a 13-year-old girl with a negative family history who manifested drug-resistant, mostly fever-induced seizures in clusters from age 5 months. Seizure frequency was not substantially reduced by anticonvulsant treatment, but tended to decrease with age. Early behavioral changes, i.e., autistic and aggressive features, worsened with time. Molecular genetic testing for PCDH19 mutations was performed by...

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Source

Identifiers

PMID: 22633638
DOI: 10.1016/j.pediatrneurol.2012.03.004

Genes

PCDH19

Variants

Provenance

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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