Rolandic epilepsy, mental retardation, and speech dyspraxia

Definition:

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.

References:

[1]. Gaetan Lesca, et al. GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction. Nat Genet. 2013 Sep;45(9):1061-6. [Content Brief]

[2]. Johannes R Lemke, et al. Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nat Genet. 2013 Sep;45(9):1067-72. [Content Brief]

[3]. Nilika Shah Singhal, et al. Continuous Spike-Wave during Slow Wave Sleep and Related Conditions. ISRN Neurol. 2014 Jan 30;2014:619079. [Content Brief]

[4]. Patrice Roll, et al. SRPX2 mutations in disorders of language cortex and cognition. Hum Mol Genet. 2006 Apr 1;15(7):1195-207. [Content Brief]

[5]. Patrick Van Bogaert, et al. Epileptic encephalopathy with continuous spike-waves during slow-wave sleep including Landau-Kleffner syndrome. Handb Clin Neurol. 2013;111:635-40. [Content Brief]

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