Yael Shiloh‐Malawsky

GRIA2 Variant Associated With Paradoxical Response to Perampanel Expanding the Spectrum of GRIA2 ‐Related Epileptic Encephalopathy: Case Report and Literature Review

ABSTRACT Introduction GRIA2 encodes the GluA2 ionotropic α‐amino‐3‐hydroxy‐5‐methyl‐4‐isoxazolepropionic acid (AMPA) receptor subunit. Pathogenic GRIA2 variants cause epilepsy, developmental delay, and neurobehavioral disorders. Characterizations of clinical features, including s...