GRIN2B epileptic encephalopathy
Evidence-based neurology checklist on grin2b epileptic encephalopathy: Pathology This involves the Beta-2 subunit of the NMDA receptor Clinical features Magnetic resonance imaging (MRI) brain: features
Pathology
- This involves the Beta-2 subunit of the NMDA receptor
Clinical features
Magnetic resonance imaging (MRI) brain: features
References
- Platzer K, Yuan H, Schütz H, et al.GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects. J Med Genet 2017; 54:460-470.
- Lemke JR, Hendrickx R, Geider K, et al. GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy. Ann Neurol 2014; 75:147-154.
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