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Journal Abstract Search

265 related items for PubMed ID: 35606653

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  • 2. Fine Mapping of a Dravet Syndrome Modifier Locus on Mouse Chromosome 5 and Candidate Gene Analysis by RNA-Seq.
    Hawkins NA, Zachwieja NJ, Miller AR, Anderson LL, Kearney JA.
    PLoS Genet; 2016 Oct; 12(10):e1006398. PubMed ID: 27768696
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  • 4. Gene expression profiling in a mouse model of Dravet syndrome.
    Hawkins NA, Calhoun JD, Huffman AM, Kearney JA.
    Exp Neurol; 2019 Jan; 311():247-256. PubMed ID: 30347190
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  • 5. Strain- and age-dependent hippocampal neuron sodium currents correlate with epilepsy severity in Dravet syndrome mice.
    Mistry AM, Thompson CH, Miller AR, Vanoye CG, George AL, Kearney JA.
    Neurobiol Dis; 2014 May; 65():1-11. PubMed ID: 24434335
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  • 7. Gabra2 is a genetic modifier of Dravet syndrome in mice.
    Hawkins NA, Nomura T, Duarte S, Barse L, Williams RW, Homanics GE, Mulligan MK, Contractor A, Kearney JA.
    Mamm Genome; 2021 Oct; 32(5):350-363. PubMed ID: 34086081
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  • 8. Heterozygous deletion of Gpr55 does not affect a hyperthermia-induced seizure, spontaneous seizures or survival in the Scn1a+/- mouse model of Dravet syndrome.
    Anderson LL, Bahceci DA, Hawkins NA, Everett-Morgan D, Banister SD, Kearney JA, Arnold JC.
    PLoS One; 2023 Oct; 18(1):e0280842. PubMed ID: 36701411
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  • 9. Mosaicism of de novo pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes.
    de Lange IM, Koudijs MJ, van 't Slot R, Gunning B, Sonsma ACM, van Gemert LJJM, Mulder F, Carbo EC, van Kempen MJA, Verbeek NE, Nijman IJ, Ernst RF, Savelberg SMC, Knoers NVAM, Brilstra EH, Koeleman BPC.
    Epilepsia; 2018 Mar; 59(3):690-703. PubMed ID: 29460957
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  • 10. The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.
    Brunklaus A, Brünger T, Feng T, Fons C, Lehikoinen A, Panagiotakaki E, Vintan MA, Symonds J, Andrew J, Arzimanoglou A, Delima S, Gallois J, Hanrahan D, Lesca G, MacLeod S, Marjanovic D, McTague A, Nuñez-Enamorado N, Perez-Palma E, Scott Perry M, Pysden K, Russ-Hall SJ, Scheffer IE, Sully K, Syrbe S, Vaher U, Velayutham M, Vogt J, Weiss S, Wirrell E, Zuberi SM, Lal D, Møller RS, Mantegazza M, Cestèle S.
    Brain; 2022 Nov 21; 145(11):3816-3831. PubMed ID: 35696452
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  • 11. Rare variants of small effect size in neuronal excitability genes influence clinical outcome in Japanese cases of SCN1A truncation-positive Dravet syndrome.
    Hammer MF, Ishii A, Johnstone L, Tchourbanov A, Lau B, Sprissler R, Hallmark B, Zhang M, Zhou J, Watkins J, Hirose S.
    PLoS One; 2017 Nov 21; 12(7):e0180485. PubMed ID: 28686619
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  • 12. Clinical and molecular analysis of epilepsy-related genes in patients with Dravet syndrome.
    Jiang T, Shen Y, Chen H, Yuan Z, Mao S, Gao F.
    Medicine (Baltimore); 2018 Dec 21; 97(50):e13565. PubMed ID: 30558019
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  • 14. Fine Mapping and Candidate Gene Analysis of Dravet Syndrome Modifier Loci on Mouse Chromosomes 7 and 8.
    Hawkins NA, Speakes N, Kearney JA.
    bioRxiv; 2024 Apr 18. PubMed ID: 38659879
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  • 19. Dravet syndrome as part of the clinical and genetic spectrum of sodium channel epilepsies and encephalopathies.
    Mei D, Cetica V, Marini C, Guerrini R.
    Epilepsia; 2019 Dec 18; 60 Suppl 3():S2-S7. PubMed ID: 31904125
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  • 20. De novo SCN1A pathogenic variants in the GEFS+ spectrum: Not always a familial syndrome.
    Myers KA, Burgess R, Afawi Z, Damiano JA, Berkovic SF, Hildebrand MS, Scheffer IE.
    Epilepsia; 2017 Feb 18; 58(2):e26-e30. PubMed ID: 28084635
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