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Journal Abstract Search

168 related items for PubMed ID: 23827426

  • 21. High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders.
    Kobayashi Y, Tohyama J, Kato M, Akasaka N, Magara S, Kawashima H, Ohashi T, Shiraishi H, Nakashima M, Saitsu H, Matsumoto N.
    Brain Dev; 2016 Mar; 38(3):285-92. PubMed ID: 26482601
    [Abstract] [Full Text] [Related]

  • 22. Molecular characterization of a cohort of 73 patients with infantile spasms syndrome.
    Boutry-Kryza N, Labalme A, Ville D, de Bellescize J, Touraine R, Prieur F, Dimassi S, Poulat AL, Till M, Rossi M, Bourel-Ponchel E, Delignières A, Le Moing AG, Rivier C, des Portes V, Edery P, Calender A, Sanlaville D, Lesca G.
    Eur J Med Genet; 2015 Feb; 58(2):51-8. PubMed ID: 25497044
    [Abstract] [Full Text] [Related]

  • 23. Efficacy of sodium channel blockers in SCN2A early infantile epileptic encephalopathy.
    Dilena R, Striano P, Gennaro E, Bassi L, Olivotto S, Tadini L, Mosca F, Barbieri S, Zara F, Fumagalli M.
    Brain Dev; 2017 Apr; 39(4):345-348. PubMed ID: 27876397
    [Abstract] [Full Text] [Related]

  • 24. Lacosamide for SCN2A-related intractable neonatal and infantile seizures.
    Flor-Hirsch H, Heyman E, Livneh A, Reish O, Watemberg N, Litmanovits I, Ben Sason Lilli A, Lev D, Lerman Sagie T, Bassan H.
    Epileptic Disord; 2018 Oct 01; 20(5):440-446. PubMed ID: 30361185
    [Abstract] [Full Text] [Related]

  • 25. Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities.
    Baasch AL, Hüning I, Gilissen C, Klepper J, Veltman JA, Gillessen-Kaesbach G, Hoischen A, Lohmann K.
    Epilepsia; 2014 Apr 01; 55(4):e25-9. PubMed ID: 24579881
    [Abstract] [Full Text] [Related]

  • 26. The phenotype and treatment of SCN2A-related developmental and epileptic encephalopathy.
    Kim HJ, Yang D, Kim SH, Kim B, Kim HD, Lee JS, Choi JR, Lee ST, Kang HC.
    Epileptic Disord; 2020 Oct 01; 22(5):563-570. PubMed ID: 33000761
    [Abstract] [Full Text] [Related]

  • 27. [Clinical and genetic spectrum of SCN2A gene associated epilepsy and episodic ataxia].
    Guan J, Du KX, Dong Y, Li L, Song PP, Gong H, Zhang XL, Jia TM.
    Zhonghua Er Ke Za Zhi; 2022 Jan 02; 60(1):51-55. PubMed ID: 34986624
    [Abstract] [Full Text] [Related]

  • 28. Infantile epileptic encephalopathy, transient choreoathetotic movements, and hypersomnia due to a De Novo missense mutation in the SCN2A gene.
    Hackenberg A, Baumer A, Sticht H, Schmitt B, Kroell-Seger J, Wille D, Joset P, Papuc S, Rauch A, Plecko B.
    Neuropediatrics; 2014 Aug 02; 45(4):261-4. PubMed ID: 24710820
    [Abstract] [Full Text] [Related]

  • 29. De novo SCN2A splice site mutation in a boy with Autism spectrum disorder.
    Tavassoli T, Kolevzon A, Wang AT, Curchack-Lichtin J, Halpern D, Schwartz L, Soffes S, Bush L, Grodberg D, Cai G, Buxbaum JD.
    BMC Med Genet; 2014 Mar 20; 15():35. PubMed ID: 24650168
    [Abstract] [Full Text] [Related]

  • 30. Ketogenic diet as a successful early treatment modality for SCN2A mutation.
    Turkdogan D, Thomas G, Demirel B.
    Brain Dev; 2019 Apr 20; 41(4):389-391. PubMed ID: 30415926
    [Abstract] [Full Text] [Related]

  • 31. Focal and global cortical hypometabolism in patients with newly diagnosed infantile spasms.
    Metsähonkala L, Gaily E, Rantala H, Salmi E, Valanne L, Aärimaa T, Liukkonen E, Holopainen I, Granström ML, Erkinjuntti M, Grönroos T, Sillanpää M.
    Neurology; 2002 Jun 11; 58(11):1646-51. PubMed ID: 12058093
    [Abstract] [Full Text] [Related]

  • 32. Distinctive In Vitro Phenotypes in iPSC-Derived Neurons From Patients With Gain- and Loss-of-Function SCN2A Developmental and Epileptic Encephalopathy.
    Mao M, Mattei C, Rollo B, Byars S, Cuddy C, Berecki G, Heighway J, Pachernegg S, Menheniott T, Apted D, Jia L, Dalby K, Nemiroff A, Mullen S, Reid CA, Maljevic S, Petrou S.
    J Neurosci; 2024 Feb 21; 44(8):. PubMed ID: 38148154
    [Abstract] [Full Text] [Related]

  • 33. A de novo SCN8A heterozygous mutation in a child with epileptic encephalopathy: a case report.
    Lin KM, Su G, Wang F, Zhang X, Wang Y, Ren J, Wang X, Yao Y, Zhou Y.
    BMC Pediatr; 2019 Nov 01; 19(1):400. PubMed ID: 31672125
    [Abstract] [Full Text] [Related]

  • 34. Mutations in SCN3A cause early infantile epileptic encephalopathy.
    Zaman T, Helbig I, Božović IB, DeBrosse SD, Bergqvist AC, Wallis K, Medne L, Maver A, Peterlin B, Helbig KL, Zhang X, Goldberg EM.
    Ann Neurol; 2018 Apr 01; 83(4):703-717. PubMed ID: 29466837
    [Abstract] [Full Text] [Related]

  • 35. Confirming an expanded spectrum of SCN2A mutations: a case series.
    Matalon D, Goldberg E, Medne L, Marsh ED.
    Epileptic Disord; 2014 Mar 01; 16(1):13-8. PubMed ID: 24659627
    [Abstract] [Full Text] [Related]

  • 36. Whole-exome sequencing and adrenocorticotropic hormone therapy in individuals with infantile spasms.
    Demarest S, Calhoun J, Eschbach K, Yu HC, Mirsky D, Angione K, Shaikh TH, Carvill GL, Benke TA, WES Support Group.
    Dev Med Child Neurol; 2022 May 01; 64(5):633-640. PubMed ID: 35830182
    [Abstract] [Full Text] [Related]

  • 37. Novel mutations and phenotypes of epilepsy-associated genes in epileptic encephalopathies.
    Zhou P, He N, Zhang JW, Lin ZJ, Wang J, Yan LM, Meng H, Tang B, Li BM, Liu XR, Shi YW, Zhai QX, Yi YH, Liao WP.
    Genes Brain Behav; 2018 Nov 01; 17(8):e12456. PubMed ID: 29314583
    [Abstract] [Full Text] [Related]

  • 38. Integration of biological/pathophysiological contexts to help clarify genotype-phenotype mismatches in monogenetic diseases. Childhood epilepsies associated with SCN2A as a case study.
    Winquist RJ, Cohen CJ.
    Biochem Pharmacol; 2018 May 01; 151():252-262. PubMed ID: 29307654
    [Abstract] [Full Text] [Related]

  • 39. Novel SCN2A mutation in a family associated with juvenile-onset myoclonus: Case report.
    Huang Q, Yu L, Ma M, Qi H, Wu Y.
    Medicine (Baltimore); 2019 Feb 01; 98(8):e14698. PubMed ID: 30813219
    [Abstract] [Full Text] [Related]

  • 40. Genetic convergence of developmental and epileptic encephalopathies and intellectual disability.
    Carvill GL, Jansen S, Lacroix A, Zemel M, Mehaffey M, De Vries P, Brunner HG, Scheffer IE, De Vries BBA, Vissers LELM, Mefford HC.
    Dev Med Child Neurol; 2021 Dec 01; 63(12):1441-1447. PubMed ID: 34247411
    [Abstract] [Full Text] [Related]

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