Association between the phenotype of Dravet syndrome and sodium channel α1 submit gene mutation

doi:10.16098/j.issn.0529-1356.2018.06.019

Abstract

Abstract:

Objective To investigate the clinical phenotype of children with Dravet syndrome of sodium channel α1 submit gene(SCN1A) mutation, so as to understand the relationship between the degree of lesion and the mutation of SCN1A gene in children with Dravet syndrome. Methods Forty-three children with Dravet syndrome and their family members were analyzed retrospectively from January 2014 to February 2017 in Sanya Hospital, Hainan Province. The clinical records, including SCN1A gene mutation, electrocardiogram（ECG），electroencephalograph（EEG）and nuclear magnetic resonance examination result were collected. Results SCN1A gene mutation was found in 31 cases of Dravet syndrome, including missense mutations, frameshift mutations, and large fragment deletions. The age of onset in the SCN1A⁺ group was (4.32±0.84) months, which was younger than that of the SCN1A^- group (t=2.354;P<0.05). The frequency of onset of SCN1A⁺ was 3.24±1.13 and 1.77±0.45 (t=2.435;P<0.05) in the SCN1A^-group. The number of epileptic seizures in the SCN1A⁺ group was significantly higher than that in the SCN1A- group (t=311;P<0.05). In the SCN1A⁺ group, 19 patients had varous degrees of mental retardation, while in the SCN1A^- group, 3 patients developed mental retardation (P<0.05).In the SCN1A⁺ group, 16 cases of children with EEG background diffused slow wave activity, and 21 cases of multispike slow wave. In the SCN1A^-group, there were statistically significant differences between the two groups (P<0.05).Conclusion Compared with SCN1A^- group, the children in SCN1A⁺ group show younger onset of age, higher frequency of onset and the average number of epilepsy status per year, the poorer intelligence and higher ratio of abnormal activity in EEG.

Key words: Dravet syndrome, Sodium channel α1 submit gene, Mutation, Correlation study, Retrospective analysis, Child

ZHANG Hua CHEN Hai-dan CHEN Ze-yan WU Hui-lian TANG Jiang-li WU Wei-shi WU Shi-yan HONG Li . Association between the phenotype of Dravet syndrome and sodium channel α1 submit gene mutation[J]. Acta Anatomica Sinica, 2018, 49(6): 809-813.

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