Mundasad Shruthi, Hart Anthony R, Robinson Hannah K, Greenough Anne
Department of Paediatric Neurology, King's College Hospital NHS Foundation Trust, London, UK.
Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK.
Case Rep Perinat Med. 2025 May 28;14(1):20240039. doi: 10.1515/crpm-2024-0039. eCollection 2025 Jan.
To describe the clinical presentation and response to medication in two cases of self-limiting -related epilepsy.
Both infants were born at term and had tonic seizures during the first two weeks after birth. The first infant had frequent seizures at presentation requiring two weeks of hospital stay. The second infant was born three months later and was only briefly admitted to hospital. The first infant was conceived by sperm for fertilization donated by the second case's father. Trio genome sequencing in case one successfully identified a pathogenic variant in the proband, which was also confirmed in the proband for case 2 by targeted Sanger sequencing. The second case's father was an asymptomatic carrier of the pathogenic variant. Both infants responded to Carbamazepine. At more than six months of age, they are currently seizure free and developmentally normal.
Self-limited epilepsies with onset in neonates (SeLNE) are usually autosomal dominant disorders characterized by the neonatal onset of focal motor seizures and the absence of neurodevelopmental complications. , encoding a voltage-gated potassium channel subunit, K7.2, is the most common gene associated with SeLNE. Careful history taking and a genetic diagnosis can help to make the correct therapeutic choices.
描述两例自限性相关癫痫的临床表现及药物治疗反应。
两名婴儿均足月出生，出生后两周内出现强直发作。第一名婴儿就诊时频繁发作，需住院两周。第二名婴儿在三个月后出生，仅短期住院。第一名婴儿通过使用第二名婴儿父亲捐赠的精子受精受孕。病例一中的三联体基因组测序成功在先证者中鉴定出一个致病变异，病例二中的先证者通过靶向桑格测序也得到了证实。第二名婴儿的父亲是该致病变异的无症状携带者。两名婴儿对卡马西平均有反应。目前，他们在六个月大时无癫痫发作，发育正常。
新生儿期起病的自限性癫痫（SeLNE）通常为常染色体显性疾病，其特征为新生儿期出现局灶性运动性发作且无神经发育并发症。编码电压门控钾通道亚基K7.2的 是与SeLNE相关的最常见基因。仔细询问病史和进行基因诊断有助于做出正确的治疗选择。
