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Article

Comparative characterization of PCDH19 missense and truncating variants in PCDH19-related epilepsy.

Journal of human genetics - 1 Jun 2021

Shibata Mami, Ishii Atsushi, Goto Ayako, Hirose Shinichi

Abstract excerpt

Missense and truncating variants in protocadherin 19 (PCDH19) cause PCDH19-related epilepsy. In this study, we aimed to investigate variations in distributional characteristics and the clinical implications of variant type in PCDH19-related epilepsy. We comprehensively collected PCDH19 missense and truncating variants from the literature and by sequencing six exons and intron-exon boundaries of PCDH19 in our...

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Identifiers

PMID: 33262389
DOI: 10.1038/s10038-020-00880-z
PMCID: PMC8144015

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