Ontology highlight
ABSTRACT:
SUBMITTER: Yang JO
PROVIDER: S-EPMC7874053 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
Yang Jin Ok JO Choi Min-Hyuk MH Yoon Ji-Yong JY Lee Jeong-Ju JJ Nam Sang Ook SO Jun Soo Young SY Kwon Hyeok Hee HH Yun Sohyun S Jeon Su-Jin SJ Byeon Iksu I Halder Debasish D Kong Juhyun J Lee Byungwook B Lee Jeehun J Kang Joon-Won JW Kim Nam-Soon NS
Frontiers in genetics 20210120
Lennox-Gastaut syndrome (LGS) is a severe type of childhood-onset epilepsy characterized by multiple types of seizures, specific discharges on electroencephalography, and intellectual disability. Most patients with LGS do not respond well to drug treatment and show poor long-term prognosis. Approximately 30% of patients without brain abnormalities have unidentifiable causes. Therefore, accurate diagnosis and treatment of LGS remain challenging. To identify causative mutations of LGS, we analyzed ...[more]