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Journal Abstract Search

388 related items for PubMed ID: 25865495

  • 21. When should clinicians search for GLUT1 deficiency syndrome in childhood generalized epilepsies?
    Lebon S, Suarez P, Alija S, Korff CM, Fluss J, Mercati D, Datta AN, Poloni C, Marcoz JP, Campos-Xavier AB, Bonafé L, Roulet-Perez E.
    Eur J Paediatr Neurol; 2015 Mar; 19(2):170-5. PubMed ID: 25532859
    [Abstract] [Full Text] [Related]

  • 22. Myoclonic-astatic epilepsy of early childhood--clinical and EEG analysis of myoclonic-astatic seizures, and discussions on the nosology of the syndrome.
    Oguni H, Fukuyama Y, Tanaka T, Hayashi K, Funatsuka M, Sakauchi M, Shirakawa S, Osawa M.
    Brain Dev; 2001 Nov; 23(7):757-64. PubMed ID: 11701290
    [Abstract] [Full Text] [Related]

  • 23. Epilepsy with myoclonic-atonic seizures, also known as Doose syndrome: Modification of the diagnostic criteria.
    Oguni H.
    Eur J Paediatr Neurol; 2022 Jan; 36():37-50. PubMed ID: 34883415
    [Abstract] [Full Text] [Related]

  • 24. Mild Phenotype Associated with SLC6A1 Gene Mutation: A Case Report with Literature Review.
    Posar A, Visconti P.
    J Pediatr Neurosci; 2019 Jan; 14(2):100-102. PubMed ID: 31516630
    [Abstract] [Full Text] [Related]

  • 25. Neurodevelopmental phenotypes associated with pathogenic variants in SLC6A1.
    Kahen A, Kavus H, Geltzeiler A, Kentros C, Taylor C, Brooks E, Green Snyder L, Chung W.
    J Med Genet; 2022 Jun; 59(6):536-543. PubMed ID: 34006619
    [Abstract] [Full Text] [Related]

  • 26. γ-Aminobutyric acid transporter and GABAA receptor mechanisms in Slc6a1+/A288V and Slc6a1+/S295L mice associated with developmental and epileptic encephalopathies.
    Shen W, Nwosu G, Honer M, Clasadonte J, Schmalzbauer S, Biven M, Langer K, Flamm C, Poliquin S, Mermer F, Dedeurwaerdere S, Hernandez MC, Kang JQ.
    Brain Commun; 2024 Jun; 6(2):fcae110. PubMed ID: 38650830
    [Abstract] [Full Text] [Related]

  • 27. [Electroclinical features of myoclonic-atonic epilepsy].
    Deng J, Zhang YH, Liu XY, Yang ZX, Xiong H, Wang S, Bao XH, Jiang YW, Qin J, Lin Q, Wu XR.
    Zhonghua Er Ke Za Zhi; 2011 Aug; 49(8):577-82. PubMed ID: 22093418
    [Abstract] [Full Text] [Related]

  • 28. The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome.
    Larsen J, Johannesen KM, Ek J, Tang S, Marini C, Blichfeldt S, Kibaek M, von Spiczak S, Weckhuysen S, Frangu M, Neubauer BA, Uldall P, Striano P, Zara F, MAE working group of EuroEPINOMICS RES Consortium, Kleiss R, Simpson M, Muhle H, Nikanorova M, Jepsen B, Tommerup N, Stephani U, Guerrini R, Duno M, Hjalgrim H, Pal D, Helbig I, Møller RS.
    Epilepsia; 2015 Dec; 56(12):e203-8. PubMed ID: 26537434
    [Abstract] [Full Text] [Related]

  • 29. [Phenotype and SCN1A gene mutation screening in 39 families with generalized epilepsy with febrile seizures plus].
    Xu XJ, Zhang YH, Sun HH, Liu XY, Wu HS, Wu XR.
    Zhonghua Er Ke Za Zhi; 2012 Aug; 50(8):580-6. PubMed ID: 23158734
    [Abstract] [Full Text] [Related]

  • 30. Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?
    Scheffer IE, Zhang YH, Jansen FE, Dibbens L.
    Brain Dev; 2009 May; 31(5):394-400. PubMed ID: 19203856
    [Abstract] [Full Text] [Related]

  • 31. Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy.
    Ceulemans BP, Claes LR, Lagae LG.
    Pediatr Neurol; 2004 Apr; 30(4):236-43. PubMed ID: 15087100
    [Abstract] [Full Text] [Related]

  • 32. Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity.
    Kanai K, Hirose S, Oguni H, Fukuma G, Shirasaka Y, Miyajima T, Wada K, Iwasa H, Yasumoto S, Matsuo M, Ito M, Mitsudome A, Kaneko S.
    Neurology; 2004 Jul 27; 63(2):329-34. PubMed ID: 15277629
    [Abstract] [Full Text] [Related]

  • 33. Early childhood myoclonic epilepsy: An independent genetic generalized epilepsy with myoclonic seizures as the main seizure type.
    Yang Z, Xue J, Li H, Qian P, Liu X, Jiang Y, Zhang Y.
    Clin Neurophysiol; 2017 Sep 27; 128(9):1656-1663. PubMed ID: 28738275
    [Abstract] [Full Text] [Related]

  • 34. SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis.
    Stefanski A, Pérez-Palma E, Brünger T, Montanucci L, Gati C, Klöckner C, Johannesen KM, Goodspeed K, Macnee M, Deng AT, Aledo-Serrano Á, Borovikov A, Kava M, Bouman AM, Hajianpour MJ, Pal DK, Engelen M, Hagebeuk EEO, Shinawi M, Heidlebaugh AR, Oetjens K, Hoffman TL, Striano P, Freed AS, Futtrup L, Balslev T, Abulí A, Danvoye L, Lederer D, Balci T, Nouri MN, Butler E, Drewes S, van Engelen K, Howell KB, Khoury J, May P, Trinidad M, Froelich S, Lemke JR, Tiller J, Freed AN, Kang JQ, Wuster A, Møller RS, Lal D.
    Brain; 2023 Dec 01; 146(12):5198-5208. PubMed ID: 37647852
    [Abstract] [Full Text] [Related]

  • 35. Molecular Pathogenic Basis for GABRG2 Mutations Associated With a Spectrum of Epilepsy Syndromes, From Generalized Absence Epilepsy to Dravet Syndrome.
    Kang JQ, Macdonald RL.
    JAMA Neurol; 2016 Aug 01; 73(8):1009-16. PubMed ID: 27367160
    [Abstract] [Full Text] [Related]

  • 36. Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.
    Marini C, Mei D, Temudo T, Ferrari AR, Buti D, Dravet C, Dias AI, Moreira A, Calado E, Seri S, Neville B, Narbona J, Reid E, Michelucci R, Sicca F, Cross HJ, Guerrini R.
    Epilepsia; 2007 Sep 01; 48(9):1678-1685. PubMed ID: 17561957
    [Abstract] [Full Text] [Related]

  • 37. Myoclonic seizures in the context of generalized epilepsy with febrile seizures plus (GEFS+).
    Baulac M, Gourfinkel-An I, Baulac S, Leguern E.
    Adv Neurol; 2005 Sep 01; 95():119-25. PubMed ID: 15508917
    [No Abstract] [Full Text] [Related]

  • 38. GABBR1 and SLC6A1, Two Genes Involved in Modulation of GABA Synaptic Transmission, Influence Risk for Alcoholism: Results from Three Ethnically Diverse Populations.
    Enoch MA, Hodgkinson CA, Shen PH, Gorodetsky E, Marietta CA, Roy A, Goldman D.
    Alcohol Clin Exp Res; 2016 Jan 01; 40(1):93-101. PubMed ID: 26727527
    [Abstract] [Full Text] [Related]

  • 39. Consistency of parent-report SLC6A1 data in Simons Searchlight with Provider-Based Publications.
    Bain JM, Snyder LG, Helbig KL, Cooper DD, Chung WK, Goodspeed K.
    J Neurodev Disord; 2022 Jun 28; 14(1):40. PubMed ID: 35761184
    [Abstract] [Full Text] [Related]

  • 40. 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 28; 8(11):e1461. PubMed ID: 32945607
    [Abstract] [Full Text] [Related]

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