AUTHOR=Caputo Davide , Franceschetti Silvana , Castellotti Barbara , Freri Elena , Zorzi G. , Saletti Veronica , Canafoglia Laura , Granata Tiziana 

TITLE=Case report: SLC6A1 mutations presenting with isolated absence seizures: description of 2 novel cases

JOURNAL=Frontiers in Neuroscience

VOLUME=Volume 17 - 2023

YEAR=2023

URL=https://www.frontiersin.org/journals/neuroscience/articles/10.3389/fnins.2023.1219244

DOI=10.3389/fnins.2023.1219244

ISSN=1662-453X

ABSTRACT=We report the clinical and EEG data of two patients harbouring heterozygous SLC6A1 mutations, who presented with typical absence seizures at 3 Hz-spike-and-wave and mild cognitive disability. Neuroradiological and other laboratory investigations were normal. Our observations suggest that the SLC6A1 mutations can be suspected in children with typical absences as the only seizure type, especially if associated with, even mild, cognitive deficits.