Itani Asmita, Banjade Prakash, Shrestha Upama, Surani Salim, Sharma Munish
General Medicine, Institute of Medicine, Tribhuvan University, Kathmandu, NPL.
Pediatrics, One Brooklyn Health/Brookdale Hospital Medical Center, New York, USA.
Cureus. 2025 May 22;17(5):e84627. doi: 10.7759/cureus.84627. eCollection 2025 May.
Familial focal epilepsy with variable foci-1 (FFEVF1) is a genetic epilepsy syndrome associated with a pathogenic mutation in the DEPDC5 gene. It has autosomal dominant inheritance, along with incomplete penetrance and a variable phenotype. We present a case of focal seizures that progressed to generalized tonic-clonic seizures within the span of one year in a 12-month-old male child. A family history of epilepsy was present in the mother and grandmother of the child. Generalized epilepsy was observed in the initial EEG, while the MRI of the brain was unremarkable. Levetiracetam was unable to control the seizures; however, they were partially responsive to sodium valproate, which was prescribed later. A heterozygous pathogenic variant was revealed in exon 26 during whole-exome sequencing of the DEPDC5 gene. Family history and genetic testing can play crucial roles in pediatric epilepsy diagnosis, particularly when lab investigations and neuroimaging are normal, as showcased in this case.
家族性可变病灶性癫痫-1（FFEVF1）是一种与DEPDC5基因致病性突变相关的遗传性癫痫综合征。它具有常染色体显性遗传，同时伴有不完全外显率和可变表型。我们报告一例12个月大男童，其局灶性癫痫发作在1年内进展为全身强直阵挛性发作。患儿的母亲和祖母有癫痫家族史。初始脑电图显示为全身性癫痫，而脑部磁共振成像无明显异常。左乙拉西坦无法控制癫痫发作；然而，后来开具的丙戊酸钠对癫痫发作有部分疗效。在DEPDC5基因的全外显子测序中，第26外显子发现了一个杂合致病性变异。如本病例所示，家族史和基因检测在小儿癫痫诊断中可发挥关键作用，尤其是在实验室检查和神经影像学检查正常时。
