[MIM 245 570]

Autosomal recessive transmission of a pathogenic mutation of the GRIN2A gene (Glutamate ionotropic receptor NMDA type subunit 2A) (16p13.2). Epileptic syndrome with convulsions usually located in the temporal lobe (rolandic zone of speech) appearing as centrotemporal spike-waves, most often occurring during sleep, on the EEG.

The penetrance of the mutation is variable and leads to many phenotypes:

-        Landau-Kleffner syndrome (see this term): epileptic encephalopathy with developmental regression and acquired verbal apraxia

-        early-onset epileptic encephalopathy and intellectual deficit associated with a mutation of the GRIN2A gene

-        Continuous Spike-Waves during Sleep (POCS or CSWS) (Continuous Spikes and Waves during Sleep); epileptic encephalopathy with status epilepticus during sleep; improves before puberty but the neurological sequelae are severe

-        rolandic epilepsy - speech dyspraxia syndrome, some cases of which are related to a mutation of the SRPX2 gene (Xq22.1) [MIM 300 643]

-        some cases of childhood benign rolandic epilepsy with temporal spike-waves [MIM 117 100]: it accounts for 13 to 23 % of epilepsy during childhood; autosomal dominant transmission; typical EEG tracing with "centrotemporal spikes"; It disappears before adolescence and often does not require any treatment

Anesthetic implications:

epilepsy of variable severity

References :

-        Carvill G L, Regan B M, Yendle S C, O'Roak B J, Lozovaya N, Bruneau N et al. 
GRIN2A mutations cause epilepsy-aphasia spectrum disorders. 
Nature Genet 2013; 45: 1073-6.

-        Gosh B, Carsten D.
General anesthesia for a child with Landau-Kleffner syndrome : a case report.
Anesth Prog 2010; 57: 109-11.

Updated: August 2020