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Journal Abstract Search

344 related items for PubMed ID: 31401500

  • 1. 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; 71():222-228. PubMed ID: 31401500
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  • 2. 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
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  • 5. 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; 59(2):389-402. PubMed ID: 29315614
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  • 6. 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
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  • 7. Genetic epilepsy with febrile seizures plus: Refining the spectrum.
    Zhang YH, Burgess R, Malone JP, Glubb GC, Helbig KL, Vadlamudi L, Kivity S, Afawi Z, Bleasel A, Grattan-Smith P, Grinton BE, Bellows ST, Vears DF, Damiano JA, Goldberg-Stern H, Korczyn AD, Dibbens LM, Ruzzo EK, Hildebrand MS, Berkovic SF, Scheffer IE.
    Neurology; 2017 Sep 19; 89(12):1210-1219. PubMed ID: 28842445
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  • 9. Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?
    Scheffer IE, Zhang YH, Jansen FE, Dibbens L.
    Brain Dev; 2009 May 19; 31(5):394-400. PubMed ID: 19203856
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  • 10. 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
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  • 12. Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes.
    Scheffer IE, Berkovic SF.
    Brain; 1997 Mar 06; 120 ( Pt 3)():479-90. PubMed ID: 9126059
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  • 16. [Simple febrile seizure, complex seizure, generalized epilepsy with febrile seizure plus, FIRES and new syndromes].
    Moreno de Flagge N.
    Medicina (B Aires); 2013 Mar 06; 73 Suppl 1():63-70. PubMed ID: 24072053
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  • 17. 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 06; 128(9):1656-1663. PubMed ID: 28738275
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  • 19. Phenotypic spectrum of patients with GABRB2 variants: from mild febrile seizures to severe epileptic encephalopathy.
    Yang Y, Xiangwei W, Zhang X, Xiao J, Chen J, Yang X, Jia T, Yang Z, Jiang Y, Zhang Y.
    Dev Med Child Neurol; 2020 Oct 06; 62(10):1213-1220. PubMed ID: 32686847
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  • 20. Partial epilepsy with antecedent febrile seizures and seizure aggravation by antiepileptic drugs: associated with loss of function of Na(v) 1.1.
    Liao WP, Shi YW, Long YS, Zeng Y, Li T, Yu MJ, Su T, Deng P, Lei ZG, Xu SJ, Deng WY, Liu XR, Sun WW, Yi YH, Xu ZC, Duan S.
    Epilepsia; 2010 Sep 06; 51(9):1669-78. PubMed ID: 20550552
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