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=17

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