Early-onset rapidly progressive myoclonic epilepsy associated with G392R likely pathogenic variant in SERPINI1

被引:4
作者
Kara, Bulent [1 ]
Sarikaya, Cansu Egilmez [2 ]
Bayrak, Yunus Emre [3 ]
Gunes, Ayfer Sakarya [1 ]
Gungor, Mesut [1 ]
Yesil, Gozde [4 ]
机构
[1] Kocaeli Univ, Div Child Neurol, Dept Pediat, Fac Med, Umuttepe Kampusu, TR-41380 Kocaeli, Turkey
[2] Kocaeli Univ, Dept Neurol, Fac Med, Kocaeli, Turkey
[3] Kocaeli Univ, Dept Pediat, Fac Med, Kocaeli, Turkey
[4] Istanbul Bezm I Alem Univ, Dept Med Genet, Istanbul, Turkey
来源
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY | 2020年 / 80卷
关键词
Neuroserpinosis; SERPINI1; Neurodejenerative disorders; Progressive myoclonus epilepsy;
D O I
10.1016/j.seizure.2020.06.022
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
[No abstract available]
引用
收藏
页码:181 / 182
页数:2
相关论文
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