KEGG   DISEASE: Rolandic epilepsy, mental retardation, and speech dyspraxia
Entry
H01827                      Disease                                

Name
Rolandic epilepsy, mental retardation, and speech dyspraxia
  Subgroup
Landau-Kleffner syndrome [DS:H01514]
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
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Epilepsy
   H01827  Rolandic epilepsy, mental retardation, and speech dyspraxia
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Epilepsy or seizures
   8A62  Epileptic encephalopathies
    H01827  Rolandic epilepsy, mental retardation, and speech dyspraxia
Pathway
hsa04724  Glutamatergic synapse
Gene
GRIN2A [HSA:2903] [KO:K05209]
SRPX2 [HSA:27286] [KO:K19408]
Other DBs
ICD-11: 8A62.Y
ICD-10: G40.4
MeSH: D019305
OMIM: 245570 300643
Reference
  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
Reference
  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
Reference
  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
Reference
  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
Reference
  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

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