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

Frontiers in Neuroscience

Neuroscience

Barbara Castellotti¹  Silvana Franceschetti²  Davide Caputo³  G. Zorzi³  Elena Freri³  Veronica Saletti³  Tiziana Granata³  Laura Canafoglia⁴ 

[1] Department of Diagnostic and Technology, Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy;Department of Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy;Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy;Integrated Diagnostics for Epilepsy, Department of Diagnostic and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy;

关键词: absence;    epilepsy;    SLC6A1;    intellectual disability;    GABA;   

DOI  :  10.3389/fnins.2023.1219244

 received in 2023-05-08, accepted in 2023-06-05,  发布年份 2023

来源: Frontiers

【 摘 要 】

We report the clinical and EEG data of two patients harboring heterozygous SLC6A1 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 SLC6A1 mutations can be suspected in children with typical absences as the only seizure type, especially if associated with, even mild, cognitive deficits.

【 授权许可】

Unknown   
Copyright © 2023 Caputo, Franceschetti, Castellotti, Freri, Zorzi, Saletti, Canafoglia and Granata.