Rolandic epilepsy, mental retardation, and speech dyspraxia

Landau-Kleffner syndrome [DS:H01514]

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.

Nervous system disease

GRIN2A [HSA:2903] [KO:K05209]
SRPX2 [HSA:27286] [KO:K19408]

PMID:23622211

Van Bogaert P

Epileptic encephalopathy with continuous spike-waves during slow-wave sleep including Landau-Kleffner syndrome.

Handb Clin Neurol 111:635-40 (2013)
DOI:10.1016/B978-0-444-52891-9.00066-X

PMID:24634784

Singhal NS, Sullivan JE

Continuous Spike-Wave during Slow Wave Sleep and Related Conditions.

ISRN Neurol 2014:619079 (2014)
DOI:10.1155/2014/619079

PMID:23933819

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Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes.

Nat Genet 45:1067-72 (2013)
DOI:10.1038/ng.2728

PMID:23933820

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

GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction.

Nat Genet 45:1061-6 (2013)
DOI:10.1038/ng.2726

PMID:16497722

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

SRPX2 mutations in disorders of language cortex and cognition.

Hum Mol Genet 15:1195-207 (2006)
DOI:10.1093/hmg/ddl035