Genetics and clinical correlation of Dravet syndrome and its mimics ― Experience of a tertiary center in Taiwan

Dravet syndrome is a severe developmental and epileptic encephalopathy characterized by the onset of prolonged febrile and afebrile seizures in infancy and SCN1A gene mutations. In some cases, non-SCN1A gene mutations can present with a phenotype very similar to that of Dravet syndrome. The aim of this study was to compare phenotypes of patients with SCN1A and non-SCN1A gene mutation-related Dravet syndrome.

Source: Pediatrics and Neonatology - June 19, 2021 Category: Perinatology & Neonatology Authors: Yi-Hsuan Liu, Yi-Ting Cheng, Meng-Han Tsai, I-Jun Chou, Po-Cheng Hung, Meng-Ying Hsieh, Yi-Shan Wang, Yun-Ju Chen, Cheng-Yen Kuo, Jainn-Jim Lin, Huei-Shyong Wang, Kuang-Lin Lin Tags: Original Article Source Type: research