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Expanding the genetic and clinical characteristics of Protocadherin 19 gene mutations.

BMC medical genomics - 17 Aug 2022

Dell'Isola Giovanni Battista, Mencaroni Elisabetta, Fattorusso Antonella, Tascini Giorgia, Prontera Paolo, Imperatore Valentina, Di Cara Giuseppe, Striano Pasquale, Verrotti Alberto

Abstract excerpt

BACKGROUND: PCDH19-related epilepsy is a rare X-linked type of epilepsy caused by genomic variants of the Protocadherin 19 (PCDH19) gene. The clinical characteristics of PCDH19-related epilepsy are epileptic and non-epileptic symptoms with highly variable severity among patients. CASE PRESENTATION: We present a case of a 4-year old female with PCDH19-related epilepsycaused by new variants in the PCDH19 gene. Our...

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Identifiers

PMID: 35978409
DOI: 10.1186/s12920-022-01313-w
PMCID: PMC9386923

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