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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Detalles Bibliográficos
Autores principales: Caputo, Davide, Franceschetti, Silvana, Castellotti, Barbara, Freri, Elena, Zorzi, G., Saletti, Veronica, Canafoglia, Laura, Granata, Tiziana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10339345/
https://www.ncbi.nlm.nih.gov/pubmed/37457006
http://dx.doi.org/10.3389/fnins.2023.1219244

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10339345/
https://www.ncbi.nlm.nih.gov/pubmed/37457006
http://dx.doi.org/10.3389/fnins.2023.1219244

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