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Abstract：
UNASSIGNED: This study aimed to examine the clinical and gene-mutation characteristics of pediatric patients with sodium channel gene mutation-related childhood epilepsy and to provide a basis for precision treatment and genetic counseling.
UNASSIGNED: The clinical data from 94 patients with sodium channel gene mutation-related childhood epilepsy who were treated at Hunan Children\'s Hospital from August 2012 to December 2022 were retrospectively evaluated, and the clinical characteristics, gene variants, treatment, and follow-up status were analyzed and summarized.
UNASSIGNED: Our 94 pediatric patients with sodium channel gene variant-related childhood epilepsy comprised 37 girls and 57 boys. The age of disease onset ranged from 1 day to 3 years. We observed seven different sodium channel gene variants, and 55, 14, 9, 6, 6, 2, and 2 patients had SCNlA, SCN2A, SCN8A, SCN9A, SCN1B, SCN11A, and SCN3A variants, respectively. We noted that 52 were reported variants and 42 were novel variants. Among all gene types, SCN1A, SCN2A, and SCN8A variants were associated with an earlier disease onset age. With the exception of the SCN1B, the other six genes were associated with clustering seizures. Except for variants SCN3A and SCN11A, some patients with other variants had status epilepticus (SE). The main diagnosis of children with SCN1A variants was Dravet syndrome (DS) (72.7%), whereas patients with SCN2A and SCN8A variants were mainly diagnosed with various types of epileptic encephalopathy, accounting for 85.7% (12 of 14) and 88.9% (8 of 9) respectively. A total of five cases of sudden unexpected death in epilepsy (SUDEP) occurred in patients with SCN1A, SCN2A, and SCN8A variants. The proportion of benign epilepsy in patients with SCN9A, SCN11A, and SCN1B variants was relatively high, and the epilepsy control rate was higher than the rate of other variant types.
UNASSIGNED: Sodium channel gene variants involve different epileptic syndromes, and the treatment responses also vary. We herein reported 42 novel variants, and we are also the first ever to report two patients with SCN11A variants, thereby increasing the gene spectrum and phenotypic profile of sodium channel dysfunction. We provide a basis for precision treatment and prognostic assessment.
UNASSIGNED: The clinical data from 94 patients with sodium channel gene mutation-related childhood epilepsy who were treated at Hunan Children\'s Hospital from August 2012 to December 2022 were retrospectively evaluated, and the clinical characteristics, gene variants, treatment, and follow-up status were analyzed and summarized.
UNASSIGNED: Our 94 pediatric patients with sodium channel gene variant-related childhood epilepsy comprised 37 girls and 57 boys. The age of disease onset ranged from 1 day to 3 years. We observed seven different sodium channel gene variants, and 55, 14, 9, 6, 6, 2, and 2 patients had SCNlA, SCN2A, SCN8A, SCN9A, SCN1B, SCN11A, and SCN3A variants, respectively. We noted that 52 were reported variants and 42 were novel variants. Among all gene types, SCN1A, SCN2A, and SCN8A variants were associated with an earlier disease onset age. With the exception of the SCN1B, the other six genes were associated with clustering seizures. Except for variants SCN3A and SCN11A, some patients with other variants had status epilepticus (SE). The main diagnosis of children with SCN1A variants was Dravet syndrome (DS) (72.7%), whereas patients with SCN2A and SCN8A variants were mainly diagnosed with various types of epileptic encephalopathy, accounting for 85.7% (12 of 14) and 88.9% (8 of 9) respectively. A total of five cases of sudden unexpected death in epilepsy (SUDEP) occurred in patients with SCN1A, SCN2A, and SCN8A variants. The proportion of benign epilepsy in patients with SCN9A, SCN11A, and SCN1B variants was relatively high, and the epilepsy control rate was higher than the rate of other variant types.
UNASSIGNED: Sodium channel gene variants involve different epileptic syndromes, and the treatment responses also vary. We herein reported 42 novel variants, and we are also the first ever to report two patients with SCN11A variants, thereby increasing the gene spectrum and phenotypic profile of sodium channel dysfunction. We provide a basis for precision treatment and prognostic assessment.
摘要：
■本研究旨在探讨钠通道基因突变相关儿童癫痫患儿的临床及基因突变特点，为精准治疗和遗传咨询提供依据。
■回顾性分析2012年8月至2022年12月湖南省儿童医院收治的94例钠通道基因突变相关儿童癫痫患者的临床资料。和临床特征，基因变异，治疗,并对随访情况进行了分析和总结。
■我们的94名患有钠通道基因变异相关儿童癫痫的儿科患者包括37名女孩和57名男孩。发病年龄为1天至3岁。我们观察到七种不同的钠通道基因变异，55、14、9、6、6、2和2名患者患有SCNlA，SCN2A,SCN8A,SCN9A,SCN1B,SCN11A,和SCN3A变体，分别。我们注意到52个被报道的变体和42个新的变体。在所有的基因类型中,SCN1A,SCN2A,和SCN8A变异与较早的疾病发病年龄相关。除了SCN1B,其他6个基因与聚集性癫痫发作有关.除了变体SCN3A和SCN11A，一些有其他变异的患者有癫痫持续状态(SE).SCN1A变异患儿的主要诊断为Dravet综合征(DS)(72.7%),而SCN2A和SCN8A变异的患者主要被诊断为各种类型的癫痫性脑病，分别占85.7%(14个中的12个)和88.9%(9个中的8个)。共有5例癫痫猝死（SUDEP）患者发生SCN1A，SCN2A,和SCN8A变体。SCN9A患者中良性癫痫的比例、SCN11A,SCN1B变异相对较高，癫痫控制率高于其他变异型。
■钠通道基因变异涉及不同的癫痫综合征，治疗反应也各不相同。我们在此报告了42个新的变体，我们也是第一个报告两名SCN11A变异的患者，从而增加钠通道功能障碍的基因谱和表型谱。我们为精确治疗和预后评估提供了依据。
■回顾性分析2012年8月至2022年12月湖南省儿童医院收治的94例钠通道基因突变相关儿童癫痫患者的临床资料。和临床特征，基因变异，治疗,并对随访情况进行了分析和总结。
■我们的94名患有钠通道基因变异相关儿童癫痫的儿科患者包括37名女孩和57名男孩。发病年龄为1天至3岁。我们观察到七种不同的钠通道基因变异，55、14、9、6、6、2和2名患者患有SCNlA，SCN2A,SCN8A,SCN9A,SCN1B,SCN11A,和SCN3A变体，分别。我们注意到52个被报道的变体和42个新的变体。在所有的基因类型中,SCN1A,SCN2A,和SCN8A变异与较早的疾病发病年龄相关。除了SCN1B,其他6个基因与聚集性癫痫发作有关.除了变体SCN3A和SCN11A，一些有其他变异的患者有癫痫持续状态(SE).SCN1A变异患儿的主要诊断为Dravet综合征(DS)(72.7%),而SCN2A和SCN8A变异的患者主要被诊断为各种类型的癫痫性脑病，分别占85.7%(14个中的12个)和88.9%(9个中的8个)。共有5例癫痫猝死（SUDEP）患者发生SCN1A，SCN2A,和SCN8A变体。SCN9A患者中良性癫痫的比例、SCN11A,SCN1B变异相对较高，癫痫控制率高于其他变异型。
■钠通道基因变异涉及不同的癫痫综合征，治疗反应也各不相同。我们在此报告了42个新的变体，我们也是第一个报告两名SCN11A变异的患者，从而增加钠通道功能障碍的基因谱和表型谱。我们为精确治疗和预后评估提供了依据。
