PCDH19-related epilepsy in a male with Klinefelter syndrome: Additional evidence supporting PCDH19 cellular interference disease mechanism.

Edward J Romasko,Elizabeth T DeChene,Jorune Balciuniene,Gozde T Akgumus,Ingo Helbig,Jennifer M Tarpinian,Beth A Keena,Maria G Vogiatzi,Elaine H Zackai,Kosuke Izumi,Shavonne L Massey,Ahmad N Abou Tayoun

Epilepsy Research（2018）

引用 16|浏览23

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摘要

•We describe a male child with Klinefelter syndrome and epilepsy of unknown etiology.•We identified a pathogenic heterozygous PCDH19 variant by exome sequencing.•PCDH19-related epilepsy had only been described in females and mosaic males.•These findings support the PCDH19 cellular interference disease hypothesis.

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关键词

PCDH19,Klinefelter syndrome,Epilepsy,Molecular diagnostics

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