目的:早期识别继发于钾或钠通道编码基因致病变异的新生儿癫痫发作至关重要,因为这些癫痫发作通常对常用的抗癫痫药物耐药,但对钠通道阻滞剂反应良好。最近,在患有KCNQ2相关癫痫的新生儿中描述了一种特征性发作振幅整合脑电图(aEEG)模式.我们报告了由SCN2A和KCNQ3致病变异引起的癫痫发作中类似的aEEG模式,以及常规EEG(cEEG)描述。
方法:国际多中心描述性研究,报告临床特征,aEEG和cEEG发现13例新生儿因致病性SCN2A-和KCNQ3-变体而癫痫发作。作为一个比较组,对因缺氧缺血性脑病(n=117)和其他经证实的影响通道功能的遗传原因(n=55)导致癫痫的新生儿的EEG和cEEG进行了审查。
结果:13例患者中有12例,aEEG显示出短暂发作的特征性序列,随后迅速上升,然后是后期振幅衰减。这种模式与双侧脑电图发作衰减相关,随后是有节奏的放电,以几秒钟的发作后振幅抑制结束。除了KCNQ2相关癫痫患者,对照组中没有患者具有相似的aEEG或cEEG模式。
结论:新生儿SCN2A和KCNQ3相关癫痫发作通常可以通过特征性脑电图模式来识别,先前仅在KCNQ2相关癫痫中报道,将这一独特特征扩展到其他信道。即使在遗传结果可用之前,对这种模式的认识也有助于迅速启动钠通道阻滞剂的精确治疗。
OBJECTIVE: Early recognition of seizures in neonates secondary to pathogenic variants in potassium or sodium channel coding genes is crucial, as these seizures are often resistant to commonly used anti-seizure medications but respond well to sodium channel blockers. Recently, a characteristic ictal amplitude-integrated electroencephalogram (aEEG) pattern was described in neonates with KCNQ2-related epilepsy. We report a similar aEEG pattern in seizures caused by
SCN2A- and KCNQ3-pathogenic variants, as well as conventional EEG (cEEG) descriptions.
METHODS: International multicentre descriptive study, reporting clinical characteristics, aEEG and cEEG findings of 13 neonates with seizures due to pathogenic
SCN2A- and KCNQ3-variants. As a comparison group, aEEGs and cEEGs of neonates with seizures due to hypoxic-ischemic encephalopathy (n = 117) and other confirmed genetic causes affecting channel function (n = 55) were reviewed.
RESULTS: In 12 out of 13 patients, the aEEG showed a characteristic sequence of brief onset with a decrease, followed by a quick rise, and then postictal amplitude attenuation. This pattern correlated with bilateral EEG onset attenuation, followed by rhythmic discharges ending in several seconds of post-ictal amplitude suppression. Apart from patients with KCNQ2-related epilepsy, none of the patients in the comparison groups had a similar aEEG or cEEG pattern.
CONCLUSIONS: Seizures in
SCN2A- and KCNQ3-related epilepsy in neonates can usually be recognized by a characteristic ictal aEEG pattern, previously reported only in KCNQ2-related epilepsy, extending this unique feature to other channelopathies. Awareness of this pattern facilitates the prompt initiation of precision treatment with sodium channel blockers even before genetic results are available.