Department of Paediatric Neurology, Evelina Children's Hospital, London, UK.
Epilepsia. 2011 Apr;52(4):e26-30. doi: 10.1111/j.1528-1167.2011.03019.x. Epub 2011 Mar 22.
We describe three children with genetically different sodium channel alpha 1 subunit (SCN1A) mutation associated epilepsy who experienced a sudden and sustained neurologic regression following status epilepticus in two and acute sepsis in one. Neuroimaging showed evidence of cerebral ischemia in one, but the other two cases showed cerebellar signal abnormalities. The selectivity of cerebellar white matter change suggests a different mechanism of injury or increased susceptibility of this brain region to injury in at least some patients with SCN1A mutations. This report adds to the spectrum and mechanism of acute neurologic deterioration and functional deficit associated with SCN1A mutations, which remains to be fully understood.
我们描述了 3 例具有不同基因突变的钠通道 α1 亚单位（SCN1A）相关癫痫的儿童，他们在癫痫持续状态后出现突然和持续的神经功能衰退，其中 2 例继发于癫痫持续状态，1 例继发于急性脓毒症。神经影像学显示 1 例存在脑缺血证据，但另外 2 例显示小脑信号异常。小脑白质改变的选择性提示，在至少部分 SCN1A 突变患者中，该脑区的损伤机制或易感性不同。本报告增加了与 SCN1A 突变相关的急性神经恶化和功能缺陷的谱和机制，目前仍有待充分理解。
