講演情報
[O13-4]有熱性てんかん重積・急性脳症に単一遺伝子疾患は存在するのか？
○山口 宏1, 花房 宏昭1, 徳元 翔一1, 冨岡 和美1, 西山 将広2, 丸山 あずさ2, 森貞 直哉3, 野津 寛大1, 永瀬 裕昭1 (1.神戸大学大学院医学研究科 小児科, 2.兵庫県立こども病院 神経内科, 3.兵庫県立こども病院 臨床遺伝科)
Background: Developmental and epileptic encephalopathy (DEE) patients present with seizures and abnormal findings on electroencephalography and are characterized by developmental retardation and regression. Until now, more than 100 genes have been reported as a cause of DEE. On the other hand, acute encephalopathy (AE) refers to brain dysfunction and is often associated with viral infections, mainly in infants, which usually have neurological sequelae. The common initial symptom of AE is febrile status epilepticus (FSE). Although DEE and AE/FSE seem to be closely related to each other, several causative genes have been identified for DEE, but not many have been identified for AE/FSE. Objective: To identify the monogenic abnormalities in AE/FSE and compare the identification rate of the genes between DEE and AE/FSE Methods: Between January 2021 and June 2022, 6 patients with FSE (epileptic seizure duration ≧30 minutes), 7 patients with AE, and 25 patients with DEE visited Kobe University Hospital or related hospitals for genetic analysis. We searched for the causative gene using the Sanger sequence, our original encephalopathy-related gene panel (331 genes), or whole-exome sequence. Results: The causative genes were identified in approximately 50% of the DEE cases, but only in 10－20% of the FSE and AE cases. Conclusion: Although the number of cases of AE/FSE is less, its frequency of gene identification as the cause of previously reported monogenic abnormalities is lower than that of DEE. Thus, unknown genes or multiple factors may be involved in the onset of AE/FSE.