A5028707918- Neurological diseases and metabolism
- Genetic Neurodegenerative Diseases
- Hereditary Neurological Disorders
- Genetics and Neurodevelopmental Disorders
- Epilepsy research and treatment
- Genomics and Rare Diseases
Central South University
2023
Third Xiangya Hospital
2023
Second Affiliated Hospital of Guangzhou Medical University
2018
Guangzhou Medical University
2018
Ministry of Education of the People's Republic of China
2018
Epileptic encephalopathies are severe epilepsy disorders with strong genetic bases. We performed targeted next-generation sequencing (NGS) in 70 patients epileptic encephalopathies. The likely pathogenicity of variants candidate genes was evaluated by American College Medical Genetics and Genomics (ACMG) scoring taken together the accepted clinical presentation. Thirty-three were detected after population filtration computational prediction. According to ACMG, 21 variants, including 18 de...