GRIN 2A mutation – Two cases with different phenotypes

Objective: GRIN 2A mutation is associated with clinical variability, the phenotypic heterogeneity being represented by unaffected individuals, speech disorders and learning disabilities, epilepsy focal with centro-temporal spikes (childhood epilepsy with centro-temporal spikes, atypical childhood epilepsy with centro-temporal spikes, epileptic encephalopathy with continuous spike-and-wave during sleep and Landau Kleffner syndrome), epilepsy aphasia syndromes and severe epileptic encephalopathies. The purpose of this poster is to present two cases with different phenotypes of GRIN 2A mutation. Methods: We present two cases with mutation GRIN 2A: Patient 1, a girl, with the onset seizures at age 2 years and 9 months (mioclono-astatic seizures and absence seizures), language disorders and moderate mental retardation,treated with valproic acid , clobazam and synachten, with the persistence of seizures and patient 2, also a girl, which presented the onset of seizures was the age of 4 years and 8 months (mioclono-astatic seizures), dyslalia and learning disorders, on treatment with valproic acid, lamotrigine, nitrazepam what stopped the seizures. Results: Both girls have normal brain MRI exam and genetic test of GRIN 2A was positive. The EEG of patient 1 is with continuous spike-and-wave during sleep, but EEG of second patient is normal, as her seizures stopped. Conclusion: The phenotype of patients with GRIN 2A mutation can be varied from unaffected patients in patients with severe epileptic encephalopathy.