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Article

PCDH19-related epilepsy: a rare but recognisable clinical syndrome in females.

Practical neurology - 1 Aug 2017

Lyons Shane, Marnane Michael, Reavey Eleanor, Williams Nicola, Costello Daniel

Abstract excerpt

Protocadherin 19 (PCDH19)-related epilepsy (OMIM 300088) is a distinctive clinical syndrome limited to females. We describe a 17-year-old girl who presented to a regional epilepsy clinic with a history of recurrent febrile seizures in infancy. Genetic analysis of the PCDH19 gene revealed a novel heterozygous mutation within a highly conserved region of the gene. Patients with PCDH19 mutations present with...

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Identifiers

PMID: 28455388
DOI: 10.1136/practneurol-2016-001521

Genes

PCDH19

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