| H01827 | |
| H number | H01827 |
| Name | Rolandic epilepsy, mental retardation, and speech dyspraxia |
| Description | 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. |
| Category | Nervous system disease |
| Network | - |
| Gene | GRIN2A [HSA:2903] [KO:K05209] SRPX2 [HSA:27286] [KO:K19408] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 8A62.Y ICD-10: G40.4 MeSH: D019305 OMIM: 245570 300643 |
| Reference | PMID:23622211 AUTHORS Van Bogaert P TITLE Epileptic encephalopathy with continuous spike-waves during slow-wave sleep including Landau-Kleffner syndrome. JOURNAL Handb Clin Neurol 111:635-40 (2013) DOI:10.1016/B978-0-444-52891-9.00066-X PMID:24634784 AUTHORS Singhal NS, Sullivan JE TITLE Continuous Spike-Wave during Slow Wave Sleep and Related Conditions. JOURNAL ISRN Neurol 2014:619079 (2014) DOI:10.1155/2014/619079 PMID:23933819 AUTHORS 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 TITLE Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. JOURNAL Nat Genet 45:1067-72 (2013) DOI:10.1038/ng.2728 PMID:23933820 AUTHORS 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 TITLE GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction. JOURNAL Nat Genet 45:1061-6 (2013) DOI:10.1038/ng.2726 PMID:16497722 AUTHORS 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 TITLE SRPX2 mutations in disorders of language cortex and cognition. JOURNAL Hum Mol Genet 15:1195-207 (2006) DOI:10.1093/hmg/ddl035 |