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Homozygous TBC1D24 Mutation in a Case of Epilepsia Partialis Continua

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机构： [1]Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China, [2]The Beijing Key Laboratory of Neuromodulation, Beijing, China, [3]Center of Epilepsy, Beijing Institute for Brain Disorders, Capital Medical University, Beijing, China

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关键词： TBC1D24 gene epilepsia partialis continua homozygous mutation morphometric analysis program MRI post-processing technique

摘要：

TBC1D24 mutation-related epileptic syndrome includes a wide spectrum of epilepsies. We describe a case with a homozygous TBC1D24 mutation inherited from consanguineous parents. The patient manifested epilepsia partialis continua (EPC) and rare secondary generalized tonic-clonic seizure without intellectual disability or developmental delay. EPC, which involved focal limbs, came with waking and went with sleep. The genetic analysis reported a novel mutation in the TBC1D24 gene, c.229_240del (p.82_84del). The homozygous mutation was inherited from her healthy parents who were heterozygous. Morphometric analysis program (MAP), an MRI post-processing technique, was used and detected a subtle abnormality of the brain. A comprehensive analysis based on semiology, electroencephalogram, somatosensory-evoked potential, and MAP suggested a potential focal structural abnormality. This case indicates a possible correlation between the TBC1D24 mutation and brain development abnormality.

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出版当年[2017]版：

大类 | 2 区医学

小类 | 3 区临床神经病学 3 区神经科学

最新[2023]版：

大类 | 3 区医学

小类 | 3 区临床神经病学 3 区神经科学

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出版当年[2016]版：

Q2 CLINICAL NEUROLOGY Q2 NEUROSCIENCES

最新[2023]版：

Q2 CLINICAL NEUROLOGY Q3 NEUROSCIENCES

影响因子： 2.7 最新[2023版] 3.3 最新五年平均 3.552 出版当年[2016版] 0 出版当年五年平均 3.184 出版前一年[2015版] 3.508 出版后一年[2017版]

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第一作者机构： [1]Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China,

通讯作者：

通讯机构： [1]Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China,

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