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- Nachgewiesen in: MEDLINE
- Sprachen: English
- Publication Type: Case Reports
- Language: English
- [Epileptic Disord] 2024 Apr; Vol. 26 (2), pp. 233-235. <i>Date of Electronic Publication: </i>2023 Nov 06.
- MeSH Terms: Status Epilepticus* / genetics ; Humans ; Child ; Electroencephalography ; GABA Plasma Membrane Transport Proteins / genetics
- References: Caraballo RH, Chacón S, Fasulo L, Bedoya C. De novo absence status epilepticus in three paediatric patients: a new idiopathic epilepsy syndrome? Epileptic Disord. 2018;20(6):502–507. ; Pepi C, Cesaroni E, Striano P, Maiorani D, Pruna D, Cossu S, et al. De novo absence status epilepticus in a pediatric cohort: Electroclinical pattern in a multicenter Italian patients cohort. Seizure. 2019;73:79–82. ; Carvill GL, McMahon JM, Schneider A, Zemel M, Myers CT, Saykally J, et al. Mutations in the GABA transporter SLC6A1 cause epilepsy with myoclonic‐atonic seizures. Am J Hum Genet. 2015;96(5):808–815. ; Goodspeed K, Pérez‐Palma E, Iqbal S, Cooper D, Scimemi A, Johannesen KM, et al. Current knowledge of SLC6A1‐related neurodevelopmental disorders. Brain Commun. 2020;2(2):fcaa170. ; Stefanski A, Pérez‐Palma E, Brünger T, Montanucci L, Gati C, Klöckner C, et al. SLC6A1 variant pathogenicity, molecular function, and phenotype: a genetic and clinical analysis. Brain. 2023;awad292. https://doi.org/10.1093/brain/awad29. ; Johannesen KM, Gardella E, Linnankivi T, Courage C, de Saint MA, Lehesjoki AE, et al. Defining the phenotypic spectrum of SLC6A1 mutations. Epilepsia. 2018;59:389–402. ; Tang S, Addis L, Smith A, Topp SD, Pendziwiat M, Mei D, et al. Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures. Epilepsia. 2020;61(5):995–1007. ; Posar A, Visconti P. Mild phenotype associated with SLC6A1 gene mutation: a case report with literature review. J Pediatr Neurosci. 2019;14(2):100–102. ; Kassabian B, Fenger CD, Willems M, Aledo‐Serrano A, Linnankivi T, McDonnell PP, et al. Intrafamilial variability in SLC6A1‐related neurodevelopmental disorders. Front Neurosci. 2023;17:1219262. ; Owens MJ, Nemeroff CB. Pharmacology of valproate. Psychopharmacol Bull. 2003;37(Suppl 2):17–24.
- Substance Nomenclature: 0 (SLC6A1 protein, human) ; 0 (GABA Plasma Membrane Transport Proteins)
- Entry Date(s): Date Created: 20231025 Date Completed: 20240415 Latest Revision: 20240415
- Update Code: 20240415
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