| H01827 | |
| H番号 | H01827 |
| 名称 | ローランドてんかん、精神遅滞および発語失行 |
| 概要 | Rolandic epilepsy is the most frequent childhood focal epilepsy. Mutations in GRIN2A has been detected in atypical rolandic epilepsy associated with verbal dyspraxia or with dysphasia. Recently, SRPX2 has been identified as being responsible for rolandic epilepsy associated with speech dyspraxia and mental retardation. |
| カテゴリ | 神経系疾患 |
| ネットワーク | - |
| 病因遺伝子 | GRIN2A [HSA:2903] [KO:K05209] SRPX2 [HSA:27286] [KO:K19408] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 8A62.Y ICD-10: G40.4 MeSH: D019305 OMIM: 245570 300643 |
| 文献 | PMID:23622211 著者 Van Bogaert P タイトル Epileptic encephalopathy with continuous spike-waves during slow-wave sleep including Landau-Kleffner syndrome. 雑誌 Handb Clin Neurol 111:635-40 (2013) DOI:10.1016/B978-0-444-52891-9.00066-X PMID:24634784 著者 Singhal NS, Sullivan JE タイトル Continuous Spike-Wave during Slow Wave Sleep and Related Conditions. 雑誌 ISRN Neurol 2014:619079 (2014) DOI:10.1155/2014/619079 PMID:23933819 著者 Lemke JR, Lal D, Reinthaler EM, Steiner I, Nothnagel M, Alber M, Geider K, Laube B, Schwake M, Finsterwalder K, Franke A, Schilhabel M, Jahn JA, Muhle H, Boor R, Van Paesschen W, Caraballo R, Fejerman N, Weckhuysen S, De Jonghe P, Larsen J, Moller RS, Hjalgrim H, Addis L, Tang S, Hughes E, Pal DK, Veri K, Vaher U, Talvik T, Dimova P, Guerrero Lopez R, Serratosa JM, Linnankivi T, Lehesjoki AE, Ruf S, Wolff M, Buerki S, Wohlrab G, Kroell J, Datta AN, Fiedler B, Kurlemann G, Kluger G, Hahn A, Haberlandt DE, Kutzer C, Sperner J, Becker F, Weber YG, Feucht M, Steinbock H, Neophythou B, Ronen GM, Gruber-Sedlmayr U, Geldner J, Harvey RJ, Hoffmann P, Herms S, Altmuller J, Toliat MR, Thiele H, Nurnberg P, Wilhelm C, Stephani U, Helbig I, Lerche H, Zimprich F, Neubauer BA, Biskup S, von Spiczak S タイトル Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. 雑誌 Nat Genet 45:1067-72 (2013) DOI:10.1038/ng.2728 PMID:23933820 著者 Lesca G, Rudolf G, Bruneau N, Lozovaya N, Labalme A, Boutry-Kryza N, Salmi M, Tsintsadze T, Addis L, Motte J, Wright S, Tsintsadze V, Michel A, Doummar D, Lascelles K, Strug L, Waters P, de Bellescize J, Vrielynck P, de Saint Martin A, Ville D, Ryvlin P, Arzimanoglou A, Hirsch E, Vincent A, Pal D, Burnashev N, Sanlaville D, Szepetowski P タイトル GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction. 雑誌 Nat Genet 45:1061-6 (2013) DOI:10.1038/ng.2726 PMID:16497722 著者 Roll P, Rudolf G, Pereira S, Royer B, Scheffer IE, Massacrier A, Valenti MP, Roeckel-Trevisiol N, Jamali S, Beclin C, Seegmuller C, Metz-Lutz MN, Lemainque A, Delepine M, Caloustian C, de Saint Martin A, Bruneau N, Depetris D, Mattei MG, Flori E, Robaglia-Schlupp A, Levy N, Neubauer BA, Ravid R, Marescaux C, Berkovic SF, Hirsch E, Lathrop M, Cau P, Szepetowski P タイトル SRPX2 mutations in disorders of language cortex and cognition. 雑誌 Hum Mol Genet 15:1195-207 (2006) DOI:10.1093/hmg/ddl035 |