Novel frameshift variant of NHLRC1 gene in compound heterozygosity in an adult Greek patient with Lafora disease

被引：1
|
作者：
Afrantou, Theodora [1 ]
Lagoudaki, Roza [1 ]
Papadopoulos, Theofanis [2 ]
Karayannopoulou, Georgia [3 ]
Galidis, Eleftherios [3 ]
Migkos, Konstantinos [1 ]
Stavridou, Eleni [1 ]
Kimiskidis, Vasilios [4 ]
Ioannidis, Panagotis [1 ]
Grigoriadis, Nikolaos [1 ]
机构：
[1] Aristotle Univ Thessaloniki, Ahepa Univ Hosp, B Dept Neurol, Stilp Kyriakidis 1, Thessaloniki 54636, Greece
[2] Lab Mol Biol & Genet Karyo Ltd, Thessaloniki, Greece
[3] Aristotle Univ Thessaloniki, Ahepa Univ Hosp, Dept Pathol, Thessaloniki, Greece
[4] Aristotle Univ Thessaloniki, Ahepa Univ Hosp, Clin Neurophysiol Lab, Thessaloniki, Greece
来源：
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY | 2021年 / 86卷
关键词：
Novel frameshift variant; NHLRC1; gene; Compound heterozygosity; Lafora disease; Progressive myoclonus epilepsy; Drug resistant epilepsy; MUTATION;
D O I：
10.1016/j.seizure.2021.01.011
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：49 / 51
页数：3
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