一例通过临床猜测驱动的靶向DNA测序诊断出的SCN8A相关发育性癫痫脑病,钠通道阻滞剂联合疗法缓解了癫痫症状

Yoshitaka Mitsui , Hitoshi Sato , Sumihito Togi , Hiroki Ura , Yo Niida
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摘要

背景SCN8A相关癫痫和/或神经发育障碍包括非常广泛的表型。最严重的形式是 SCN8A 发育性癫痫脑病(DEE),从婴儿早期就会出现难治性癫痫,并可能导致猝死。早期诊断和治疗干预是至关重要的,但诊断是以基因检测为基础的,明确诊断往往被延迟。大多数抗癫痫药物无效,但大剂量苯妥英可抑制癫痫发作,因此怀疑是钠通道病变,并进行了有针对性的 DNA 测序,结果发现 SCN8A 基因中存在致病性错义变异 Val1315Met。根据诊断结果,患者开始接受钠通道阻滞剂(SCBs)联合治疗,癫痫发作得到缓解。值得注意的是,即使像本病例一样单用一种钠通道阻滞剂效果不佳,联合治疗也能使 SCN8A-DEE 不再发作。
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A case of SCN8A-related developmental epileptic encephalopathy diagnosed by clinical speculation driven targeted DNA sequencing and remission of epilepsy by sodium channel blockers combination therapy

Background

SCN8A-related epilepsy and/or neurodevelopmental disorders encompass a very broad spectrum of phenotypes. The most severe form, SCN8A developmental and epileptic encephalopathy (DEE), develops intractable epilepsy from early infancy and can lead to sudden death. Early diagnosis and therapeutic intervention are essential, but diagnosis is based on genetic testing and definitive diagnosis is often delayed.

Case report

A 4-month-old girl presented with intractable epilepsy. Most antiepileptic drugs were ineffective, but high doses of phenytoin suppressed seizures, so a sodium channelopathy was suspected and targeted DNA sequencing was performed, which revealed a pathogenic missense variant Val1315Met in the SCN8A gene. Based on the diagnosis, combination therapy with sodium channel blockers (SCBs) was initiated and the seizures resolved.

Conclusion

We experienced SCN8A-DEE, which led to early diagnosis based on clinical course and improved prognosis. It is noteworthy that even when the effect of a single SCB is insufficient, as in this case, combination therapy can lead to seizure free in SCN8A-DEE.

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