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Expanding the phenotype of TRAK1 mutations: hyperekplexia and refractory status epilepticus.

作者信息

Sagie Shira, Lerman-Sagie Tally, Maljevic Snezana, Yosovich Keren, Detert Katja, Chung Seo-Kyung, Rees Mark I, Lerche Holger, Lev Dorit

机构信息

Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.

Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel.

出版信息

Brain. 2018 Jul 1;141(7):e55. doi: 10.1093/brain/awy129.

DOI:10.1093/brain/awy129
PMID:29846532
Abstract
摘要

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Expanding the phenotype of TRAK1 mutations: hyperekplexia and refractory status epilepticus.扩展TRAK1突变的表型：惊跳症和难治性癫痫持续状态。
Brain. 2018 Jul 1;141(7):e55. doi: 10.1093/brain/awy129.
2
GLRB is the third major gene of effect in hyperekplexia.GLRB 是发作性强刚性肌阵挛的第三大效应基因。
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