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

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

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...

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Bibliographic Details
Main Authors: Davide Caputo, Silvana Franceschetti, Barbara Castellotti, Elena Freri, G. Zorzi, Veronica Saletti, Laura Canafoglia, Tiziana Granata
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-06-01
Series:Frontiers in Neuroscience
Subjects:
absence
epilepsy
SLC6A1
intellectual disability
GABA
Online Access:https://www.frontiersin.org/articles/10.3389/fnins.2023.1219244/full

Internet

https://www.frontiersin.org/articles/10.3389/fnins.2023.1219244/full

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