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

页码：49 / 51

页数：3

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