A family with seizures and minor features of tuberous sclerosis and a novel TSC2 mutation
A family with seizures and minor features of tuberous sclerosis and a novel TSC2 mutation
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DOI：
10.1212/01.wnl.0000073272.47681.bb
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发表时间：
2003-08-12
期刊：
影响因子：
9.9
通讯作者：
Huttenlocher, PR
中科院分区：
文献类型：
--
作者：
O'Connor, SE;Kwiatkowski, DJ;Huttenlocher, PR
作者研究了一个家庭的九名成员，这些成员表现出有限形式的结节性硬化症（TSC）。四名患者的皮肤发现仅限于色素减退斑疹。 5名家庭成员有反复癫痫发作，其中3人患有脑套迁移缺陷。 TSC2 突变分析表明，所有癫痫家族成员中均存在新的错义变化 3106T-->C、1036S-->P。研究结果表明，这种轻微的 TSC 变异形式是由一种新的 TSC2 突变引起的。
The authors studied nine members of a family that demonstrated a limited form of tuberous sclerosis complex (TSC). Cutaneous findings were limited to hypopigmented macules in four patients. Five family members had recurrent seizures, and three of these had migrational defects of the cerebral mantle. Mutational analysis of TSC2 indicated the presence of the novel missense change 3106T-->C, 1036S-->P in all family members with seizures. The findings suggest that this mild variant form of TSC is due to a novel TSC2 mutation.