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SCN1A-Related Epilepsy: Novel Mutations and Rare Phenotypes

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机构： [1]Capital Med Univ, Xuanwu Hosp, Dept Neurol, Beijing, Peoples R China [2]Beijing Key Lab Neuromodulat, Beijing, Peoples R China [3]Capital Med Univ, Xuanwu Hosp, Dept Pediat, Beijing, Peoples R China

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关键词： epilepsy SCN1A gene novel mutation BECTS cohort

摘要：

ObjectivesTo expand the genotypes and phenotypes of sodium voltage-gated channel alpha subunit 1 (SCN1A)-related epilepsy. MethodsWe retrospectively collected the clinical and genetic information of 22 epilepsy patients (10 males, 12 females; mean: 9.2 +/- 3.9 years; 3.9-20.3 years) carrying 22 variants of SCN1A. SCN1A mutations were identified by next-generation sequencing. ResultsTwenty-two variants were identified, among which 12 have not yet been reported. The median age at seizure onset was 6 months. Sixteen patients were diagnosed with Dravet syndrome (DS), two with genetic epilepsy with febrile seizures plus [one evolved into benign epilepsy with centrotemporal spikes (BECTS)], one with focal epilepsy, one with atypical childhood epilepsy with centrotemporal spikes (ABECTS) and two with unclassified epilepsy. Fourteen patients showed a global developmental delay/intellectual disability (GDD/ID). Slow background activities were observed in one patient and epileptiform discharges were observed in 11 patients during the interictal phase. SignificanceThis study enriches the genotypes and phenotypes of SCN1A-related epilepsy. The clinical characteristics of patients with 12 previously unreported variants were described.

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出版当年[2021]版：

大类 | 2 区医学

小类 | 3 区神经科学

最新[2023]版：

大类 | 3 区医学

小类 | 3 区神经科学

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出版当年[2020]版：

Q1 NEUROSCIENCES

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Q2 NEUROSCIENCES

影响因子： 3.5 最新[2023版] 4.4 最新五年平均 5.639 出版当年[2020版] 5.76 出版当年五年平均 4.057 出版前一年[2019版] 6.261 出版后一年[2021版]

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第一作者机构： [1]Capital Med Univ, Xuanwu Hosp, Dept Neurol, Beijing, Peoples R China [2]Beijing Key Lab Neuromodulat, Beijing, Peoples R China

通讯作者：

通讯机构： [1]Capital Med Univ, Xuanwu Hosp, Dept Neurol, Beijing, Peoples R China [2]Beijing Key Lab Neuromodulat, Beijing, Peoples R China

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