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Phenotypic and Genotypic Characterization of DEPDC5-Related Familial Focal Epilepsy: Case Series and Literature Review

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收录情况： ◇ SCIE

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机构： [1]Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China [2]Beijing Key Laboratory of Neuromodulation, Beijing, China [3]Institute of Sleep and Consciousness Disorders, Beijing Institute of Brain Disorders, Collaborative Innovation Center for Brain Disorders, Capital Medical University, Beijing, China

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关键词： penetrance refractory epilepsy genotype phenotype family focal epilepsy DEPDC5

摘要：

Mutations in the disheveled, Egl-10 and domain-containing protein 5 (DEPDC5) recently have been identified as a common cause of focal epilepsy syndromes. The association between phenotype and genotype of DEPDC5 mutation has not been adequately characterized. We studied four families with familial focal epilepsy carrying DEPDC5 mutations. Four novel DEPDC5 mutations were identified by next-generation sequencing, including two missense mutations (c.1729 >A and c.3260G>A), one splicing mutation (c.280-1G>A), and one frameshift mutation (c.515_516delinsT). We found that patients carrying different DEPDC5 mutation have different clinical manifestations. Incomplete penetrance is a prominent feature of DEPDC5-related epilepsy, with the rate of penetrance ranging from 25 to 100%. About 21.4% of patients with DEPDC5-related familial focal epilepsy are refractory to treatments. We further reviewed the correlation of genotype and phenotype in all previous literature regarding DEPDC5-related epilepsy. Our study suggested that the type of DEPDC5 mutation might provide important information for the prognosis evaluation.

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出版当年[2020]版：

大类 | 3 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[2019]版：

Q2 CLINICAL NEUROLOGY Q3 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 2.889 出版当年[2019版] 3.164 出版当年五年平均 2.635 出版前一年[2018版] 4.003 出版后一年[2020版]

第一作者：

第一作者机构： [1]Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China [2]Beijing Key Laboratory of Neuromodulation, Beijing, China [3]Institute of Sleep and Consciousness Disorders, Beijing Institute of Brain Disorders, Collaborative Innovation Center for Brain Disorders, Capital Medical University, Beijing, China

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通讯作者：

通讯机构： [1]Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China [2]Beijing Key Laboratory of Neuromodulation, Beijing, China [3]Institute of Sleep and Consciousness Disorders, Beijing Institute of Brain Disorders, Collaborative Innovation Center for Brain Disorders, Capital Medical University, Beijing, China

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