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.

中文翻译：

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PRICKLE1中罕见的复合杂合变体突然猝死。

进行性肌阵挛性癫痫共济失调综合征（EPM5）是进行性肌阵挛性癫痫的常染色体隐性形式，与PRICKLE1的纯合错义突变有关。我们报告了一名23岁的男性，在难治性抽搐和呼吸衰竭后不久死亡。尸检显示单侧海马畸形，无明显的神经元丢失或神经胶质增生。使用下一代测序同时针对癫痫和心脏病的遗传分析揭示了PRICKLE1的两个变体。进一步的调查显示，患者的父亲（p.Asp760del）和母亲（p.Asp201Asn）均在该基因中有突变。当前的情况表明，EPM5也可能由复合杂合突变引起。