Pediatric Neurology Unit, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium.
Department of Pediatric Neurology, Queen Fabiola Children's Hospital-ULB, Brussels, Belgium.
Ann Clin Transl Neurol. 2022 Jul;9(7):1095-1099. doi: 10.1002/acn3.51581. Epub 2022 May 28.
Recessive mutations in the SLC13A5 gene encoding the sodium-dependent citrate transporter are a recently identified cause of developmental and epileptic encephalopathy. Here, we describe a child harboring a novel homozygous loss-of-function mutation in the SLC13A5 gene (c.1496C>T-p.Ser499Phe) and exhibiting an unusual extremely severe neonatal presentation with drug-resistant seizures and burst-suppression EEG pattern. Early carbamazepine use resulted in dramatic improvement both clinically and on EEG features. Follow-up from the neonatal period to the age of 4 years is documented. This case expands the electro-clinical phenotype associated with SLC13A5-related disease and confirms the efficacy and safety of carbamazepine in nonstructural early-onset epilepsies.
SLC13A5 基因编码的钠依赖性柠檬酸转运体中的隐性突变是新近发现的发育性和癫痫性脑病的病因。本研究描述了一名儿童携带 SLC13A5 基因（c.1496C>T-p.Ser499Phe）的新型纯合功能丧失突变，表现出不常见的极严重新生儿发作，伴有耐药性癫痫发作和爆发抑制 EEG 模式。早期使用卡马西平治疗可显著改善临床和 EEG 特征。记录了从新生儿期到 4 岁的随访情况。该病例扩展了与 SLC13A5 相关疾病相关的电临床表型，并证实了卡马西平在非结构性早发性癫痫中的疗效和安全性。
