Department of Neurology, Hunan Children's Hospital, No.86 Ziyuan Road, Changsha, 410007, Hunan, People's Republic of China.
BMC Pediatr. 2021 Jun 1;21(1):256. doi: 10.1186/s12887-021-02719-8.
Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of chronic encephalopathies characterized by epilepsy with comorbid intellectual disability that are frequently associated with de novo nonsynonymous coding variants in ion channels, cell-surface receptors, and other neuronally expressed genes. Mutations in TRPM3 were identified as the cause of DEE. We report a novel patient with DEE carrying a de novo missense mutation in TRPM3, p.(S1202T); this missense mutation has never been reported.
A 7-year and 2-month-old Chinese patient who had recurrent polymorphic seizures was clinically diagnosed with DEE. A de novo missense mutation in TRPM3, which has not yet been reported, was identified in this case. The patient had a clinical phenotype consistent with previous reports.
These findings could expand the spectrum of TRPM3 mutations and might also support that de novo substitutions of TRPM3 are a cause of DEE.
发育性和癫痫性脑病（DEE）是一组异质性的慢性脑病，其特征为伴有智力残疾的癫痫，通常与离子通道、细胞表面受体和其他神经元表达基因中的新生非同义编码变异有关。TRPM3 突变被确定为 DEE 的病因。我们报告了一例携带 TRPM3 中新生错义突变 p.(S1202T)的 DEE 新病例；这种错义突变从未有报道过。
一名 7 岁零 2 个月的中国患者反复发作多形性癫痫，临床诊断为 DEE。在该病例中发现了一个尚未报道的 TRPM3 新生错义突变。该患者的临床表现与以往报道一致。
这些发现可能扩展了 TRPM3 突变谱，也可能支持 TRPM3 的新生取代是 DEE 的一个原因。
