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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...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2023
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| Materias: | |
| 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 |