Article
Crisis-like Seizure Exacerbations in NPRL3-related Epilepsy: Phenotypic Features and Treatment Outcomes.
Neuropediatrics - 1 Feb 2026
Thormeyer V, Meyer Z, Polster T, Borggraefe I, Wallacher B, Korenke G C, Catenoix H, Panagiotakaki E, Wolff M, Kluger G, Hartlieb T, Anke B, Leiz S, Abou Jamra R, Lesca G, Kaindl A, Schwarz J M, Strehlow V, Stoeva R, Garde A, Faivre L, Racine C, Schlump J U, Zacher P, Latour P, Panzer A
Abstract excerpt
NPRL3 (nitrogen permease regulator-like 3) variants are associated with focal epilepsy syndromes, including sleep-related hypermotor epilepsy (SHE) and familial focal epilepsy with variable foci (FFEVF), with or without focal cortical dysplasia (FCD). The NPRL3 gene encodes a protein that forms the GATOR1 complex, which regulates the mTOR signaling pathway.To characterize the epilepsy phenotype associated with...
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