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Journal Abstract Search

152 related items for PubMed ID: 38846250

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  • 43. A SCN8A variant associated with severe early onset epilepsy and developmental delay: Loss- or gain-of-function?
    Liu Y, Koko M, Lerche H.
    Epilepsy Res; 2021 Dec; 178():106824. PubMed ID: 34847423
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  • 44. Neuropsychological profiles of two patients with differing SCN8A-pathogenic variants.
    Medlin LC, Bello-Espinosa L, MacAllister WS.
    Appl Neuropsychol Child; 2022 Dec; 11(3):561-566. PubMed ID: 32853054
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  • 49. De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy.
    Blanchard MG, Willemsen MH, Walker JB, Dib-Hajj SD, Waxman SG, Jongmans MC, Kleefstra T, van de Warrenburg BP, Praamstra P, Nicolai J, Yntema HG, Bindels RJ, Meisler MH, Kamsteeg EJ.
    J Med Genet; 2015 May; 52(5):330-7. PubMed ID: 25725044
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  • 50. Electroclinical features of epileptic encephalopathy caused by SCN8A mutation.
    Takahashi S, Yamamoto S, Okayama A, Araki A, Saitsu H, Matsumoto N, Azuma H.
    Pediatr Int; 2015 Aug; 57(4):758-62. PubMed ID: 25951352
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  • 57. De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders.
    Vaher U, Nõukas M, Nikopensius T, Kals M, Annilo T, Nelis M, Ounap K, Reimand T, Talvik I, Ilves P, Piirsoo A, Seppet E, Metspalu A, Talvik T.
    J Child Neurol; 2014 Dec; 29(12):NP202-6. PubMed ID: 24352161
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  • 58. A novel SCN8A variant of unknown significance in pediatric epilepsy: a case report.
    Bouzroud W, Tazzite A, Boussakri I, Gazzaz B, Dehbi H.
    J Int Med Res; 2023 Jul; 51(7):3000605231187931. PubMed ID: 37498161
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  • 60. Expanding the genotype-phenotype spectrum in SCN8A-related disorders.
    Hebbar M, Al-Taweel N, Gill I, Boelman C, Dean RA, Goodchild SJ, Mezeyova J, Shuart NG, Johnson JP, Lee J, Michoulas A, Huh LL, Armstrong L, Connolly MB, Demos MK.
    BMC Neurol; 2024 Jan 17; 24(1):31. PubMed ID: 38233770
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