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Journal Abstract Search

385 related items for PubMed ID: 24938147

  • 1. Chromosome 9q33q34 microdeletion with early infantile epileptic encephalopathy, severe dystonia, abnormal eye movements, and nephroureteral malformations.
    Matsumoto H, Zaha K, Nakamura Y, Hayashi S, Inazawa J, Nonoyama S.
    Pediatr Neurol; 2014 Jul; 51(1):170-5. PubMed ID: 24938147
    [Abstract] [Full Text] [Related]

  • 2. Early myoclonic encephalopathy in 9q33-q34 deletion encompassing STXBP1 and SPTAN1.
    Nicita F, Ulgiati F, Bernardini L, Garone G, Papetti L, Novelli A, Spalice A.
    Ann Hum Genet; 2015 May; 79(3):209-17. PubMed ID: 25779878
    [Abstract] [Full Text] [Related]

  • 3. Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.
    Di Meglio C, Lesca G, Villeneuve N, Lacoste C, Abidi A, Cacciagli P, Altuzarra C, Roubertie A, Afenjar A, Renaldo-Robin F, Isidor B, Gautier A, Husson M, Cances C, Metreau J, Laroche C, Chouchane M, Ville D, Marignier S, Rougeot C, Lebrun M, de Saint Martin A, Perez A, Riquet A, Badens C, Missirian C, Philip N, Chabrol B, Villard L, Milh M.
    Epilepsia; 2015 Dec; 56(12):1931-40. PubMed ID: 26514728
    [Abstract] [Full Text] [Related]

  • 4. STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients.
    Mignot C, Moutard ML, Trouillard O, Gourfinkel-An I, Jacquette A, Arveiler B, Morice-Picard F, Lacombe D, Chiron C, Ville D, Charles P, LeGuern E, Depienne C, Héron D.
    Epilepsia; 2011 Oct; 52(10):1820-7. PubMed ID: 21762454
    [Abstract] [Full Text] [Related]

  • 5. Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.
    Campbell IM, Yatsenko SA, Hixson P, Reimschisel T, Thomas M, Wilson W, Dayal U, Wheless JW, Crunk A, Curry C, Parkinson N, Fishman L, Riviello JJ, Nowaczyk MJ, Zeesman S, Rosenfeld JA, Bejjani BA, Shaffer LG, Cheung SW, Lupski JR, Stankiewicz P, Scaglia F.
    Genet Med; 2012 Oct; 14(10):868-76. PubMed ID: 22722545
    [Abstract] [Full Text] [Related]

  • 6. Early-onset epileptic encephalopathy with myoclonic seizures related to 9q33.3-q34.11 deletion involving STXBP1 and SPTAN1 genes.
    Aravindhan A, Shah K, Pak J, Veerapandiyan A.
    Epileptic Disord; 2018 Jun 01; 20(3):214-218. PubMed ID: 29897043
    [Abstract] [Full Text] [Related]

  • 7. Neonatal suppression-burst without epileptic seizures: expanding the electroclinical phenotype of STXBP1-related, early-onset encephalopathy.
    Mastrangelo M, Peron A, Spaccini L, Novara F, Scelsa B, Introvini P, Raviglione F, Faiola S, Zuffardi O.
    Epileptic Disord; 2013 Mar 01; 15(1):55-61. PubMed ID: 23531706
    [Abstract] [Full Text] [Related]

  • 8. A novel mutation in STXBP1 causing epileptic encephalopathy (late onset infantile spasms) with partial respiratory chain complex IV deficiency.
    Barcia G, Barnerias C, Rio M, Siquier-Pernet K, Desguerre I, Colleaux L, Munnich A, Rotig A, Nabbout R.
    Eur J Med Genet; 2013 Dec 01; 56(12):683-5. PubMed ID: 24095819
    [Abstract] [Full Text] [Related]

  • 9. FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability.
    Schneider AL, Myers CT, Muir AM, Calvert S, Basinger A, Perry MS, Rodan L, Helbig KL, Chambers C, Gorman KM, King MD, Donkervoort S, Soldatos A, Bönnemann CG, Spataro N, Gabau E, Arellano M, Cappuccio G, Brunetti-Pierri N, Rossignol E, Hamdan FF, Michaud JL, Balak C, Mefford HC, Scheffer IE.
    Epilepsia; 2021 Jan 01; 62(1):e13-e21. PubMed ID: 33280099
    [Abstract] [Full Text] [Related]

  • 10. Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations.
    Milh M, Villeneuve N, Chouchane M, Kaminska A, Laroche C, Barthez MA, Gitiaux C, Bartoli C, Borges-Correia A, Cacciagli P, Mignon-Ravix C, Cuberos H, Chabrol B, Villard L.
    Epilepsia; 2011 Oct 01; 52(10):1828-34. PubMed ID: 21770924
    [Abstract] [Full Text] [Related]

  • 11. De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.
    Saitsu H, Kato M, Mizuguchi T, Hamada K, Osaka H, Tohyama J, Uruno K, Kumada S, Nishiyama K, Nishimura A, Okada I, Yoshimura Y, Hirai S, Kumada T, Hayasaka K, Fukuda A, Ogata K, Matsumoto N.
    Nat Genet; 2008 Jun 01; 40(6):782-8. PubMed ID: 18469812
    [Abstract] [Full Text] [Related]

  • 12. De novo 15q13.3 microdeletion with cryptogenic West syndrome.
    Lacaze E, Gruchy N, Penniello-Valette MJ, Plessis G, Richard N, Decamp M, Mittre H, Leporrier N, Andrieux J, Kottler ML, Gerard M.
    Am J Med Genet A; 2013 Oct 01; 161A(10):2582-7. PubMed ID: 23929658
    [Abstract] [Full Text] [Related]

  • 13. 17q21.31 microdeletion associated with infantile spasms.
    Wray CD.
    Eur J Med Genet; 2013 Jan 01; 56(1):59-61. PubMed ID: 23123321
    [Abstract] [Full Text] [Related]

  • 14. [Clinical and genetic characteristics of children with STXBP1 encephalopathy].
    Cao JJ, Ji XN, Mao YY, Zhang PP, Liu WT, Zhang HZ, Ding N, Chen Q.
    Zhonghua Er Ke Za Zhi; 2020 Jun 02; 58(6):493-498. PubMed ID: 32521962
    [Abstract] [Full Text] [Related]

  • 15. A novel mutation in STXBP1 gene in a child with epileptic encephalopathy and an atypical electroclinical pattern.
    Romaniello R, Zucca C, Tenderini E, Arrigoni F, Ragona F, Zorzi G, Bassi MT, Borgatti R.
    J Child Neurol; 2014 Feb 02; 29(2):249-53. PubMed ID: 24170257
    [Abstract] [Full Text] [Related]

  • 16.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Mercimek-Andrews S.
    ; 1993 Feb 02. PubMed ID: 27905812
    [Abstract] [Full Text] [Related]

  • 17. Novel mutation in STXBP1 gene in a patient with non-lesional Ohtahara syndrome.
    Ortega-Moreno L, Giráldez BG, Verdú A, García-Campos O, Sánchez-Martín G, Serratosa JM, Guerrero-López R.
    Neurologia; 2016 Oct 02; 31(8):523-7. PubMed ID: 25631041
    [Abstract] [Full Text] [Related]

  • 18. STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern.
    Saitsu H, Kato M, Okada I, Orii KE, Higuchi T, Hoshino H, Kubota M, Arai H, Tagawa T, Kimura S, Sudo A, Miyama S, Takami Y, Watanabe T, Nishimura A, Nishiyama K, Miyake N, Wada T, Osaka H, Kondo N, Hayasaka K, Matsumoto N.
    Epilepsia; 2010 Dec 02; 51(12):2397-405. PubMed ID: 20887364
    [Abstract] [Full Text] [Related]

  • 19. 9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping.
    Nambot S, Masurel A, El Chehadeh S, Mosca-Boidron AL, Thauvin-Robinet C, Lefebvre M, Marle N, Thevenon J, Perez-Martin S, Dulieu V, Huet F, Plessis G, Andrieux J, Jouk PS, Billy-Lopez G, Coutton C, Morice-Picard F, Delrue MA, Heron D, Rooryck C, Goldenberg A, Saugier-Veber P, Joly-Hélas G, Calenda P, Kuentz P, Manouvrier-Hanu S, Dupuis-Girod S, Callier P, Faivre L.
    Eur J Hum Genet; 2016 Jun 02; 24(6):830-7. PubMed ID: 26395556
    [Abstract] [Full Text] [Related]

  • 20. Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome.
    Gburek-Augustat J, Beck-Woedl S, Tzschach A, Bauer P, Schoening M, Riess A.
    Eur J Paediatr Neurol; 2016 Jul 02; 20(4):661-5. PubMed ID: 27184330
    [Abstract] [Full Text] [Related]

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