Alan Serdar, Vural Sevde Nur, Aliefendioglu Didem, Senbil Nesrin
Department of Pediatrics, Kirikkale University, Faculty of Medicine, Kirikkale, TUR.
Cureus. 2022 Dec 31;14(12):e33164. doi: 10.7759/cureus.33164. eCollection 2022 Dec.
Neonatal epilepsy syndromes are responsible for only 15% of the cases of neonatal seizure. An underlying genetic disorder can be detected in approximately 42% of this subgroup. KCNQ2 gene-associated epilepsies are very rare and more common presentations are self-limited familial neonatal epilepsy (SLFNE) and early infantile epileptic encephalopathies (EIEE). The most common initial seizure semiologies are tonic seizures with or without autonomic symptoms in EIEE resulting from KCNQ2 gene mutation. It is characterized by early neonatal onset seizures with suppression burst pattern on electroencephalogram and typically results in severe developmental delay. Therapeutic options for infants with KCNQ2-related EIEE are limited and there is no consensus about it in the literature. Herein, the neonate with EIEE with unexpected episodes of hiccups due to novel mutation of the KCNQ2 gene, which was reported second time, was presented and antiepileptic treatment strategies were discussed in the light of current literature.
新生儿癫痫综合征仅占新生儿惊厥病例的15%。在该亚组中，约42%可检测到潜在的遗传疾病。KCNQ2基因相关的癫痫非常罕见，更常见的表现是自限性家族性新生儿癫痫（SLFNE）和早期婴儿癫痫性脑病（EIEE）。由KCNQ2基因突变导致的EIEE最常见的初始发作症状是伴有或不伴有自主神经症状的强直发作。其特征为新生儿早期发作，脑电图显示抑制爆发模式，通常会导致严重的发育迟缓。KCNQ2相关EIEE婴儿的治疗选择有限，且文献中对此尚无共识。在此，本文报告了第二例因KCNQ2基因新突变导致EIEE并伴有意外呃逆发作的新生儿，并根据当前文献讨论了抗癫痫治疗策略。
