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Journal Abstract Search

222 related items for PubMed ID: 31319422

  • 21. A case of early onset epileptic encephalopathy with de novo mutation in SLC35A2: Clinical features and treatment for epilepsy.
    Kimizu T, Takahashi Y, Oboshi T, Horino A, Koike T, Yoshitomi S, Mori T, Yamaguchi T, Ikeda H, Okamoto N, Nakashima M, Saitsu H, Kato M, Matsumoto N, Imai K.
    Brain Dev; 2017 Mar; 39(3):256-260. PubMed ID: 27743886
    [Abstract] [Full Text] [Related]

  • 22. [Clinical features of epilepsies associated with GABRB2 variants].
    Yang Y, Zhang YH, Chen JY, Zhang J, Yang XL, Chen Y, Yang ZX, Wu XR.
    Zhonghua Er Ke Za Zhi; 2019 Jul 02; 57(7):532-537. PubMed ID: 31269553
    [Abstract] [Full Text] [Related]

  • 23. A novel GABRB3 variant in Dravet syndrome: Case report and literature review.
    Pavone P, Pappalardo XG, Marino SD, Sciuto L, Corsello G, Ruggieri M, Parano E, Piccione M, Falsaperla R.
    Mol Genet Genomic Med; 2020 Nov 02; 8(11):e1461. PubMed ID: 32945607
    [Abstract] [Full Text] [Related]

  • 24. Association of the GABRB3 gene with nonsyndromic oral clefts.
    Inoue H, Kayano S, Aoki Y, Kure S, Yamada A, Hata A, Matsubara Y, Suzuki Y.
    Cleft Palate Craniofac J; 2008 May 02; 45(3):261-6. PubMed ID: 18452349
    [Abstract] [Full Text] [Related]

  • 25. Novel and de novo mutations in pediatric refractory epilepsy.
    Liu J, Tong L, Song S, Niu Y, Li J, Wu X, Zhang J, Zai CC, Luo F, Wu J, Li H, Wong AHC, Sun R, Liu F, Li B.
    Mol Brain; 2018 Sep 05; 11(1):48. PubMed ID: 30185235
    [Abstract] [Full Text] [Related]

  • 26. Heterozygous GABAA receptor β3 subunit N110D knock-in mice have epileptic spasms.
    Qu S, Jackson LG, Zhou C, Shen D, Shen W, Nwosu G, Howe R, Catron MA, Flamm C, Biven M, Kang JQ, Macdonald RL.
    Epilepsia; 2023 Apr 05; 64(4):1061-1073. PubMed ID: 36495145
    [Abstract] [Full Text] [Related]

  • 27. The molecular and phenotypic spectrum of CLCN4-related epilepsy.
    He H, Guzman RE, Cao D, Sierra-Marquez J, Yin F, Fahlke C, Peng J, Stauber T.
    Epilepsia; 2021 Jun 05; 62(6):1401-1415. PubMed ID: 33951195
    [Abstract] [Full Text] [Related]

  • 28. [Analysis of gene mutation of early onset epileptic spasm with unknown reason].
    Yang X, Pan G, Li WH, Zhang LM, Wu BB, Wang HJ, Zhang P, Zhou SZ.
    Zhonghua Er Ke Za Zhi; 2017 Nov 02; 55(11):813-817. PubMed ID: 29141310
    [Abstract] [Full Text] [Related]

  • 29. [Genotype and phenotype of children with KCNA2 gene related developmental and epileptic encephalopathy].
    Gong P, Xue J, Jiao XR, Zhang YH, Yang ZX.
    Zhonghua Er Ke Za Zhi; 2020 Jan 02; 58(1):35-40. PubMed ID: 31905474
    [Abstract] [Full Text] [Related]

  • 30. Correlations of receptor desensitization of gain-of-function GABRB3 variants with clinical severity.
    Lin SXN, Ahring PK, Keramidas A, Liao VWY, Møller RS, Chebib M, Absalom NL.
    Brain; 2024 Jan 04; 147(1):224-239. PubMed ID: 37647766
    [Abstract] [Full Text] [Related]

  • 31. A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy.
    Ishii A, Kang JQ, Schornak CC, Hernandez CC, Shen W, Watkins JC, Macdonald RL, Hirose S.
    J Med Genet; 2017 Mar 04; 54(3):202-211. PubMed ID: 27789573
    [Abstract] [Full Text] [Related]

  • 32. GABA and epileptogenesis: comparing gabrb3 gene-deficient mice with Angelman syndrome in man.
    DeLorey TM, Olsen RW.
    Epilepsy Res; 1999 Sep 04; 36(2-3):123-32. PubMed ID: 10515160
    [Abstract] [Full Text] [Related]

  • 33. The phenotype caused by recessive variations in SLC25A22: Report of a new case and literature review.
    André MV, Cacciagli P, Cano A, Vaugier L, Roussel M, Girard N, Chabrol B, Villard L, Milh M.
    Arch Pediatr; 2021 Jan 04; 28(1):87-92. PubMed ID: 33342683
    [Abstract] [Full Text] [Related]

  • 34. A de novo GABRA2 missense mutation in severe early-onset epileptic encephalopathy with a choreiform movement disorder.
    Orenstein N, Goldberg-Stern H, Straussberg R, Bazak L, Weisz Hubshman M, Kropach N, Gilad O, Scheuerman O, Dory Y, Kraus D, Tzur S, Magal N, Kilim Y, Shkalim Zemer V, Basel-Salmon L.
    Eur J Paediatr Neurol; 2018 May 04; 22(3):516-524. PubMed ID: 29422393
    [Abstract] [Full Text] [Related]

  • 35. 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 04; 12(10):e1006398. PubMed ID: 27768696
    [Abstract] [Full Text] [Related]

  • 36. Mutations in GABAA receptor subunits associated with genetic epilepsies.
    Macdonald RL, Kang JQ, Gallagher MJ.
    J Physiol; 2010 Jun 01; 588(Pt 11):1861-9. PubMed ID: 20308251
    [Abstract] [Full Text] [Related]

  • 37. De novo GABRA1 mutations in Ohtahara and West syndromes.
    Kodera H, Ohba C, Kato M, Maeda T, Araki K, Tajima D, Matsuo M, Hino-Fukuyo N, Kohashi K, Ishiyama A, Takeshita S, Motoi H, Kitamura T, Kikuchi A, Tsurusaki Y, Nakashima M, Miyake N, Sasaki M, Kure S, Haginoya K, Saitsu H, Matsumoto N.
    Epilepsia; 2016 Apr 01; 57(4):566-73. PubMed ID: 26918889
    [Abstract] [Full Text] [Related]

  • 38. Concordance between isolated cleft palate in mice and alterations within a region including the gene encoding the beta 3 subunit of the type A gamma-aminobutyric acid receptor.
    Culiat CT, Stubbs L, Nicholls RD, Montgomery CS, Russell LB, Johnson DK, Rinchik EM.
    Proc Natl Acad Sci U S A; 1993 Jun 01; 90(11):5105-9. PubMed ID: 8389469
    [Abstract] [Full Text] [Related]

  • 39. Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.
    Kato M, Yamagata T, Kubota M, Arai H, Yamashita S, Nakagawa T, Fujii T, Sugai K, Imai K, Uster T, Chitayat D, Weiss S, Kashii H, Kusano R, Matsumoto A, Nakamura K, Oyazato Y, Maeno M, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Saito K, Hayasaka K, Matsumoto N, Saitsu H.
    Epilepsia; 2013 Jul 01; 54(7):1282-7. PubMed ID: 23621294
    [Abstract] [Full Text] [Related]

  • 40. The molecular and phenotypic spectrum of IQSEC2-related epilepsy.
    Zerem A, Haginoya K, Lev D, Blumkin L, Kivity S, Linder I, Shoubridge C, Palmer EE, Field M, Boyle J, Chitayat D, Gaillard WD, Kossoff EH, Willems M, Geneviève D, Tran-Mau-Them F, Epstein O, Heyman E, Dugan S, Masurel-Paulet A, Piton A, Kleefstra T, Pfundt R, Sato R, Tzschach A, Matsumoto N, Saitsu H, Leshinsky-Silver E, Lerman-Sagie T.
    Epilepsia; 2016 Nov 01; 57(11):1858-1869. PubMed ID: 27665735
    [Abstract] [Full Text] [Related]

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