Article
Genetics and clinical correlation of Dravet syndrome and its mimics - experience of a tertiary center in Taiwan.
Pediatrics and neonatology - 1 Sept 2021
Liu Yi-Hsuan, Cheng Yi-Ting, Tsai Meng-Han, Chou I-Jun, Hung Po-Cheng, Hsieh Meng-Ying, Wang Yi-Shan, Chen Yun-Ju, Kuo Cheng-Yen, Lin Jainn-Jim, Wang Huei-Shyong, Lin Kuang-Lin
Abstract excerpt
BACKGROUND: 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...
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