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Journal Abstract Search

223 related items for PubMed ID: 32469098

  • 1. Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures.
    Tang S, Addis L, Smith A, Topp SD, Pendziwiat M, Mei D, Parker A, Agrawal S, Hughes E, Lascelles K, Williams RE, Fallon P, Robinson R, Cross HJ, Hedderly T, Eltze C, Kerr T, Desurkar A, Hussain N, Kinali M, Bagnasco I, Vassallo G, Whitehouse W, Goyal S, Absoud M, EuroEPINOMICS-RES Consortium, Møller RS, Helbig I, Weber YG, Marini C, Guerrini R, Simpson MA, Pal DK.
    Epilepsia; 2020 May; 61(5):995-1007. PubMed ID: 32469098
    [Abstract] [Full Text] [Related]

  • 2. Concurrent pathogenic variants in SLC6A1/NOTCH1/PRIMPOL genes in a Chinese patient with myoclonic-atonic epilepsy, mild aortic valve stenosis and high myopia.
    Yuan H, Wang Q, Li Y, Cheng S, Liu J, Liu Y.
    BMC Med Genet; 2020 May 06; 21(1):93. PubMed ID: 32375772
    [Abstract] [Full Text] [Related]

  • 3. Defining the phenotypic spectrum of SLC6A1 mutations.
    Johannesen KM, Gardella E, Linnankivi T, Courage C, de Saint Martin A, Lehesjoki AE, Mignot C, Afenjar A, Lesca G, Abi-Warde MT, Chelly J, Piton A, Merritt JL, Rodan LH, Tan WH, Bird LM, Nespeca M, Gleeson JG, Yoo Y, Choi M, Chae JH, Czapansky-Beilman D, Reichert SC, Pendziwiat M, Verhoeven JS, Schelhaas HJ, Devinsky O, Christensen J, Specchio N, Trivisano M, Weber YG, Nava C, Keren B, Doummar D, Schaefer E, Hopkins S, Dubbs H, Shaw JE, Pisani L, Myers CT, Tang S, Tang S, Pal DK, Millichap JJ, Carvill GL, Helbig KL, Mecarelli O, Striano P, Helbig I, Rubboli G, Mefford HC, Møller RS.
    Epilepsia; 2018 Feb 06; 59(2):389-402. PubMed ID: 29315614
    [Abstract] [Full Text] [Related]

  • 4. Dissecting the phenotypic and genetic spectrum of early childhood-onset generalized epilepsies.
    Kim SY, Jang SS, Kim JI, Kim H, Hwang H, Choi JE, Chae JH, Kim KJ, Lim BC.
    Seizure; 2019 Oct 06; 71():222-228. PubMed ID: 31401500
    [Abstract] [Full Text] [Related]

  • 5. CHD2 mutations are a rare cause of generalized epilepsy with myoclonic-atonic seizures.
    Trivisano M, Striano P, Sartorelli J, Giordano L, Traverso M, Accorsi P, Cappelletti S, Claps DJ, Vigevano F, Zara F, Specchio N.
    Epilepsy Behav; 2015 Oct 06; 51():53-6. PubMed ID: 26262932
    [Abstract] [Full Text] [Related]

  • 6. Exome sequencing findings in 27 patients with myoclonic-atonic epilepsy: Is there a major genetic factor?
    Routier L, Verny F, Barcia G, Chemaly N, Desguerre I, Colleaux L, Nabbout R.
    Clin Genet; 2019 Sep 06; 96(3):254-260. PubMed ID: 31170314
    [Abstract] [Full Text] [Related]

  • 7. Study of epileptic drop attacks in symptomatic epilepsy of early childhood - differences from those in myoclonic-astatic epilepsy.
    Itoh Y, Oguni H, Hirano Y, Osawa M.
    Brain Dev; 2015 Jan 06; 37(1):49-58. PubMed ID: 24731746
    [Abstract] [Full Text] [Related]

  • 8. Clinical and genetic characteristics of patients with Doose syndrome.
    Hinokuma N, Nakashima M, Asai H, Nakamura K, Akaboshi S, Fukuoka M, Togawa M, Oana S, Ohno K, Kasai M, Ogawa C, Yamamoto K, Okumiya K, Chong PF, Kira R, Uchino S, Fukuyama T, Shinagawa T, Miyata Y, Abe Y, Hojo A, Kobayashi K, Maegaki Y, Ishikawa N, Ikeda H, Amamoto M, Mizuguchi T, Iwama K, Itai T, Miyatake S, Saitsu H, Matsumoto N, Kato M.
    Epilepsia Open; 2020 Sep 06; 5(3):442-450. PubMed ID: 32913952
    [Abstract] [Full Text] [Related]

  • 9. [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 06; 49(8):577-82. PubMed ID: 22093418
    [Abstract] [Full Text] [Related]

  • 10. Epilepsy with myoclonic-atonic seizures, also known as Doose syndrome: Modification of the diagnostic criteria.
    Oguni H.
    Eur J Paediatr Neurol; 2022 Jan 06; 36():37-50. PubMed ID: 34883415
    [Abstract] [Full Text] [Related]

  • 11. SLC6A1 Mutation and Ketogenic Diet in Epilepsy With Myoclonic-Atonic Seizures.
    Palmer S, Towne MC, Pearl PL, Pelletier RC, Genetti CA, Shi J, Beggs AH, Agrawal PB, Brownstein CA.
    Pediatr Neurol; 2016 Nov 06; 64():77-79. PubMed ID: 27600546
    [Abstract] [Full Text] [Related]

  • 12. 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 06; 23(7):757-64. PubMed ID: 11701290
    [Abstract] [Full Text] [Related]

  • 13. Treatment and long-term prognosis of myoclonic-astatic epilepsy of early childhood.
    Oguni H, Tanaka T, Hayashi K, Funatsuka M, Sakauchi M, Shirakawa S, Osawa M.
    Neuropediatrics; 2002 Jun 06; 33(3):122-32. PubMed ID: 12200741
    [Abstract] [Full Text] [Related]

  • 14. Delineation of cryptogenic Lennox-Gastaut syndrome and myoclonic astatic epilepsy using multiple correspondence analysis.
    Kaminska A, Ickowicz A, Plouin P, Bru MF, Dellatolas G, Dulac O.
    Epilepsy Res; 1999 Aug 06; 36(1):15-29. PubMed ID: 10463847
    [Abstract] [Full Text] [Related]

  • 15. [Clinical characteristics of PCDH19-female limited epilepsy].
    Chen Y, Yang XL, Liu AJ, Sun D, Yang Y, Zhang J, Chen JY, Yang ZX, Jiang YW, Wu XR, Zhang YH.
    Zhonghua Er Ke Za Zhi; 2019 Nov 02; 57(11):857-862. PubMed ID: 31665840
    [Abstract] [Full Text] [Related]

  • 16. Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures.
    Carvill GL, McMahon JM, Schneider A, Zemel M, Myers CT, Saykally J, Nguyen J, Robbiano A, Zara F, Specchio N, Mecarelli O, Smith RL, Leventer RJ, Møller RS, Nikanorova M, Dimova P, Jordanova A, Petrou S, EuroEPINOMICS Rare Epilepsy Syndrome Myoclonic-Astatic Epilepsy & Dravet working group, Helbig I, Striano P, Weckhuysen S, Berkovic SF, Scheffer IE, Mefford HC.
    Am J Hum Genet; 2015 May 07; 96(5):808-15. PubMed ID: 25865495
    [Abstract] [Full Text] [Related]

  • 17. Epilepsy with myoclonic-atonic seizures (Doose syndrome): Clarification of diagnosis and treatment options through a large retrospective multicenter cohort.
    Nickels K, Kossoff EH, Eschbach K, Joshi C.
    Epilepsia; 2021 Jan 07; 62(1):120-127. PubMed ID: 33190223
    [Abstract] [Full Text] [Related]

  • 18. Comprehensive phenotypes of patients with SYNGAP1-related disorder reveals high rates of epilepsy and autism.
    Wiltrout K, Brimble E, Poduri A.
    Epilepsia; 2024 May 07; 65(5):1428-1438. PubMed ID: 38470175
    [Abstract] [Full Text] [Related]

  • 19. Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability.
    Poulat AL, Ville D, de Bellescize J, André-Obadia N, Cacciagli P, Milh M, Villard L, Lesca G.
    Epilepsy Res; 2015 Mar 07; 111():72-7. PubMed ID: 25769375
    [Abstract] [Full Text] [Related]

  • 20. Myoclonic astatic epilepsy: an age-dependent epileptic syndrome with favorable seizure outcome but variable cognitive evolution.
    Trivisano M, Specchio N, Cappelletti S, Di Ciommo V, Claps D, Specchio LM, Vigevano F, Fusco L.
    Epilepsy Res; 2011 Nov 07; 97(1-2):133-41. PubMed ID: 21873030
    [Abstract] [Full Text] [Related]

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