| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 6829967 | Seizure | 2018 | 7 Pages |
Abstract
In this study, we identified a SCARB2-related PME patient with normal renal function and a novel homozygous splicing mutation. SCARB2 gene should be analyzed in patients with progressive action myoclonus, epilepsy, peripheral neuropathy, without cognitive deterioration or renal failure.
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Authors
Wo-Tu Tian, Xiao-Li Liu, Yang-Qi Xu, Xiao-Jun Huang, Hai-Yan Zhou, Ying Wang, Hui-Dong Tang, Sheng-Di Chen, Xing-Hua Luan, Li Cao,