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2019 7
2020 44
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Neuropsychological profiles of two patients with differing SCN8A-pathogenic variants.
Medlin LC, Bello-Espinosa L, MacAllister WS. Medlin LC, et al. Appl Neuropsychol Child. 2022 Jul-Sep;11(3):561-566. doi: 10.1080/21622965.2020.1807983. Epub 2020 Aug 27. Appl Neuropsychol Child. 2022. PMID: 32853054
Case 1 is a 6-year-old right-handed girl who presented with SCN8A-developmental and epileptic encephalopathy (SCN8A-DEE) and a missense pathogenic variant (c.802A > C), not previously documented in the literature. ...These cases expand limited knowledge regarding …
Case 1 is a 6-year-old right-handed girl who presented with SCN8A-developmental and epileptic encephalopathy (SCN8A-DEE) and a …
Early-Onset Developmental and Epileptic Encephalopathies of Infancy: An Overview of the Genetic Basis and Clinical Features.
Morrison-Levy N, Borlot F, Jain P, Whitney R. Morrison-Levy N, et al. Pediatr Neurol. 2021 Mar;116:85-94. doi: 10.1016/j.pediatrneurol.2020.12.001. Epub 2020 Dec 13. Pediatr Neurol. 2021. PMID: 33515866 Review.
In addition, the following causative genes associated with early-onset developmental and epileptic encephalopathies are discussed in detail: KCNT1, KCNQ2, KCNA2, SCN2A, SCN8A, STXBP1, CDKL5, PIGA, SPTAN1, and GNAO1. The epilepsy phenotypes, comorbidities, electroencephalgr …
In addition, the following causative genes associated with early-onset developmental and epileptic encephalopathies are discussed in detail: …
Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy.
Fry AE, Marra C, Derrick AV, Pickrell WO, Higgins AT, Te Water Naude J, McClatchey MA, Davies SJ, Metcalfe KA, Tan HJ, Mohanraj R, Avula S, Williams D, Brady LI, Mesterman R, Tarnopolsky MA, Zhang Y, Yang Y, Wang X; Genomics England Research Consortium; Rees MI, Goldfarb M, Chung SK. Fry AE, et al. Am J Hum Genet. 2021 Jan 7;108(1):176-185. doi: 10.1016/j.ajhg.2020.10.017. Epub 2020 Nov 26. Am J Hum Genet. 2021. PMID: 33245860 Free PMC article.
Functional characterization of mutant FHF2A co-expressed with wild-type Na(v)1.6 (SCN8A) revealed that mutant FHF2A proteins lost the ability to induce rapid-onset, long-term blockade of the channel while retaining pro-excitatory properties. ...
Functional characterization of mutant FHF2A co-expressed with wild-type Na(v)1.6 (SCN8A) revealed that mutant FHF2A proteins lost the …
Association of early-onset epileptic encephalopathy with involuntary movements - Case series and literature review.
Arisaka A, Nakashima M, Kumada S, Inoue K, Nishida H, Mashimo H, Kashii H, Kato M, Maruyama K, Okumura A, Saitsu H, Matsumoto N, Fukuda M. Arisaka A, et al. Epilepsy Behav Rep. 2020 Dec 17;15:100417. doi: 10.1016/j.ebr.2020.100417. eCollection 2021. Epilepsy Behav Rep. 2020. PMID: 33490948 Free PMC article.
We detected four genetic mutations, including STXBP1, GNAO1, CYFIP2, and SCN8A variants. The involuntary movements were drug-resistant. However, pallidal electrocoagulation followed by gabapentin were partially effective in treating chorea and ballismus of the extremities …
We detected four genetic mutations, including STXBP1, GNAO1, CYFIP2, and SCN8A variants. The involuntary movements were drug-resistan …
Gabra2 is a genetic modifier of Scn8a encephalopathy in the mouse.
Yu W, Hill SF, Xenakis JG, Pardo-Manuel de Villena F, Wagnon JL, Meisler MH. Yu W, et al. Epilepsia. 2020 Dec;61(12):2847-2856. doi: 10.1111/epi.16741. Epub 2020 Nov 2. Epilepsia. 2020. PMID: 33140451 Free PMC article.
The protective wild-type allele of Gabra2 from strain SJL/J delays the age at seizure onset and extends life span of the Scn8a mutant mice. Additional Scn8a modifiers were observed in the F2 cross and in an F1 cross with strain C3HeB/FeJ. ...GABRA2 is a potential th …
The protective wild-type allele of Gabra2 from strain SJL/J delays the age at seizure onset and extends life span of the Scn8a mutant …
Rufinamide efficacy and association with phenotype and genotype in children with intractable epilepsy: A retrospective single center study.
Oesch G, Bozarth XL. Oesch G, et al. Epilepsy Res. 2020 Dec;168:106211. doi: 10.1016/j.eplepsyres.2019.106211. Epub 2019 Sep 28. Epilepsy Res. 2020. PMID: 31575436
Seizures were activated in a patient with a SCN1A mutation, fully controlled in a patient with a SCN8A mutation. Patients with certain genetic abnormalities such as DEPDC5, KCNQ2, SPATA5, and 47XYY achieved significant seizure reduction. CONCLUSIONS: Rufinamide is an effec …
Seizures were activated in a patient with a SCN1A mutation, fully controlled in a patient with a SCN8A mutation. Patients with certai …
44 results