Fiche publication
Date publication
novembre 2025
Journal
Neuropediatrics
Auteurs
Membres identifiés du Cancéropôle Est :
Pr FAIVRE Laurence
Tous les auteurs :
Thormeyer V, Meyer Z, Polster T, Borggraefe I, Wallacher B, Korenke GC, Catenoix H, Panagiotakaki E, Wolff M, Kluger G, Hartlieb T, Anke B, Leiz S, Abou Jamra R, Lesca G, Kaindl A, Schwarz JM, Strehlow V, Stoeva R, Garde A, Faivre L, Racine C, Schlump JU, Zacher P, Latour P, Panzer A
Lien Pubmed
Résumé
(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 gene encodes a protein that forms the GATOR1 complex, which regulates the mTOR signaling pathway.To characterize the epilepsy phenotype associated with , assess treatment strategies, and evaluate patient prognosis.We conducted a multicenter, retrospective study using an online questionnaire to collect clinical data on seizure onset, crisis-like seizure exacerbations, MRI findings, neuropsychological assessment, treatment, and genetic variants. Variants were classified per ACMG guidelines. The study was part of the Network for Therapy in Rare Epilepsies (NETRE).Data from 37 patients with -associated epilepsy were analyzed. Mean age at seizure onset was 3.7 years (median with interquartile range [IQR] 1.3-4.9). Over 1 to 45 years of follow-up (mean 13.6, IQR 5.4-18), 21/37 (57%) experienced crisis-like seizure exacerbations. MRI abnormalities were present in 10/36 (28%) cases: 8 FCD, 1 hippocampal sclerosis, and 1 hippocampal asymmetry. Persistent focal epileptiform discharges were present on serial EEGs in 20/37 patients (54%). Highest drug response rates were seen with lacosamide, followed by clobazam, carbamazepine/oxcarbazepine, and lamotrigine. Epilepsy surgery ( = 8) led to seizure freedom in four and significant reduction in one case.Crisis-like seizure exacerbations were common in NPRL3-associated epilepsy. Sodium channel blockers showed notable efficacy. Epilepsy surgery was beneficial even in MRI-negative cases. No distinct genotype-phenotype correlation was identified.
Référence
Neuropediatrics. 2025 11 19;:
