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Neurogenetics

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18.12.2018 | Short Communication

Sudden unexpected death with rare compound heterozygous variants in PRICKLE1

verfasst von: Yukiko Hata, Koji Yoshida, Naoki Nishida

Erschienen in: Neurogenetics | Ausgabe 1/2019

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Abstract

Progressive myoclonus epilepsy-ataxia syndrome (EPM5) is an autosomal recessive form of progressive myoclonus epilepsy that has been associated with a homozygous missense mutation in PRICKLE1. We report a 23-year-old male who died shortly after refractory convulsion and respiratory failure. Autopsy showed unilateral hippocampal malformation without significant neuronal loss or gliosis. Genetic analysis that targeted both epilepsy and cardiac disease using next-generation sequencing revealed two variants of PRICKLE1. Additional investigation showed that the patient’s father (p.Asp760del) and mother (p.Asp201Asn) each had a mutation in this gene. The present case shows that EPM5 can also be caused by compound heterozygous mutations.

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Titel: Sudden unexpected death with rare compound heterozygous variants in PRICKLE1
verfasst von: Yukiko Hata
Koji Yoshida
Naoki Nishida
Publikationsdatum: 18.12.2018
Verlag: Springer Berlin Heidelberg
Erschienen in: Neurogenetics / Ausgabe 1/2019
Print ISSN: 1364-6745
Elektronische ISSN: 1364-6753
DOI: https://doi.org/10.1007/s10048-018-0562-8

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