エントリ 名称 多様な焦点を示す家族性焦点性てんかん
概要 Familial focal epilepsy with variable foci (FFEVF) is an autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions, including the temporal, frontal, parietal, and occipital lobes. Recently, it has been identified that mutations in the mTOR pathway regulators, DEPDC5, NPRL2 and NPRL3 cause this disease.
カテゴリ 神経系疾患
階層分類 ICD-11 による疾患分類 [BR:jp08403 ]jp08402 ] BRITE hierarchy パスウェイ ネットワーク 病因遺伝子 リンク 文献 著者 Klein KM, O'Brien TJ, Praveen K, Heron SE, Mulley JC, Foote S, Berkovic SF, Scheffer IE
タイトル Familial focal epilepsy with variable foci mapped to chromosome 22q12: expansion of the phenotypic spectrum.
雑誌 文献 著者 Baulac S, Ishida S, Marsan E, Miquel C, Biraben A, Nguyen DK, Nordli D, Cossette P, Nguyen S, Lambrecq V, Vlaicu M, Daniau M, Bielle F, Andermann E, Andermann F, Leguern E, Chassoux F, Picard F
タイトル Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations.
雑誌 文献 著者 Ricos MG, Hodgson BL, Pippucci T, Saidin A, Ong YS, Heron SE, Licchetta L, Bisulli F, Bayly MA, Hughes J, Baldassari S, Palombo F, Santucci M, Meletti S, Berkovic SF, Rubboli G, Thomas PQ, Scheffer IE, Tinuper P, Geoghegan J, Schreiber AW, Dibbens LM
タイトル Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy.
雑誌 文献 著者 Vanoye CG, Gurnett CA, Holland KD, George AL Jr, Kearney JA
タイトル Novel SCN3A variants associated with focal epilepsy in children.
雑誌 LinkDB All DBs
