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Ohtahara syndrome相关文献:
[Syndrome of Ohtahara].
Yelin K, Alfonso I, Papazian O.
Rev Neurol. 1999 Aug 16-31;29(4):340-2.
PMID:10797923
Ohtahara syndrome with emphasis on recent genetic discovery.
Pavone P, Spalice A, Polizzi A, Parisi P, Ruggieri M.
Brain Dev. 2012 Jun;34(6):459-68. doi: 10.1016/j.braindev.2011.09.004. Epub 2011 Oct 2.
PMID:21967765
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.
Stamberger H, Nikanorova M, Willemsen MH, Accorsi P, Angriman M, Baier H, Benkel-Herrenbrueck I, Benoit V, Budetta M, Caliebe A, Cantalupo G, Capovilla G, Casara G, Courage C, Deprez M, Destrée A, Dilena R, Erasmus CE, Fannemel M, Fjær R, Giordano L, Helbig KL, Heyne HO, Klepper J, Kluger GJ, Lederer D, Lodi M, Maier O, Merkenschlager A, Michelberger N, Minetti C, Muhle H, Phalin J, Ramsey K, Romeo A, Schallner J, Schanze I, Shinawi M, Sleegers K, Sterbova K, Syrbe S, Traverso M, Tzschach A, Uldall P, Van Coster R, Verhelst H, Viri M, Winter S, Wolff M, Zenker M, Zoccante L, De Jonghe P, Helbig I, Striano P, Lemke JR, Møller RS, Weckhuysen S.
Neurology. 2016 Mar 8;86(10):954-62. doi: 10.1212/WNL.0000000000002457. Epub 2016 Feb 10.
PMID:26865513
[Ohtahara syndrome].
Romann D, Golz N, Garbe W.
Geburtshilfe Frauenheilkd. 1996 Jul;56(7):393-5. doi: 10.1055/s-2007-1023273.
PMID:8964455
Haploinsufficiency of STXBP1 and Ohtahara syndrome.
Saitsu H, Kato M, Matsumoto N.
In: Noebels JL, Avoli M, Rogawski MA, Olsen RW, Delgado-Escueta AV, editors. Jasper's Basic Mechanisms of the Epilepsies [Internet]. 4th edition. Bethesda (MD): National Center for Biotechnology Information (US); 2012.
PMID:22787616
Ohtahara syndrome.
Karunanayake MC, Perera BJ.
Ceylon Med J. 2003 Sep;48(3):89-90. doi: 10.4038/cmj.v48i3.3354.
PMID:14735807
Early Surgery for Ohtahara Syndrome Associated With Cortical Dysplasia.
Lee WC, Chen HH, Yang TF, Lee TH, Hsu TR, Chen C, Chang KP, Kwan SY, Lin WS.
Pediatr Neurol. 2023 Nov;148:28-31. doi: 10.1016/j.pediatrneurol.2023.08.005. Epub 2023 Aug 9.
PMID:37651974
Ohtahara syndrome: with special reference to its developmental aspects for differentiating from early myoclonic encephalopathy.
Ohtahara S, Yamatogi Y.
Epilepsy Res. 2006 Aug;70 Suppl 1:S58-67. doi: 10.1016/j.eplepsyres.2005.11.021. Epub 2006 Jul 10.
PMID:16829045
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Wolff M, Johannesen KM, Hedrich UBS, Masnada S, Rubboli G, Gardella E, Lesca G, Ville D, Milh M, Villard L, Afenjar A, Chantot-Bastaraud S, Mignot C, Lardennois C, Nava C, Schwarz N, Gérard M, Perrin L, Doummar D, Auvin S, Miranda MJ, Hempel M, Brilstra E, Knoers N, Verbeek N, van Kempen M, Braun KP, Mancini G, Biskup S, Hörtnagel K, Döcker M, Bast T, Loddenkemper T, Wong-Kisiel L, Baumeister FM, Fazeli W, Striano P, Dilena R, Fontana E, Zara F, Kurlemann G, Klepper J, Thoene JG, Arndt DH, Deconinck N, Schmitt-Mechelke T, Maier O, Muhle H, Wical B, Finetti C, Brückner R, Pietz J, Golla G, Jillella D, Linnet KM, Charles P, Moog U, Õiglane-Shlik E, Mantovani JF, Park K, Deprez M, Lederer D, Mary S, Scalais E, Selim L, Van Coster R, Lagae L, Nikanorova M, Hjalgrim H, Korenke GC, Trivisano M, Specchio N, Ceulemans B, Dorn T, Helbig KL, Hardies K, Stamberger H, de Jonghe P, Weckhuysen S, Lemke JR, Krägeloh-Mann I, Helbig I, Kluger G, Lerche H, Møller RS.
Brain. 2017 May 1;140(5):1316-1336. doi: 10.1093/brain/awx054.
PMID:28379373
Early-onset epileptic encephalopathies: Ohtahara syndrome and early myoclonic encephalopathy.
Beal JC, Cherian K, Moshe SL.
Pediatr Neurol. 2012 Nov;47(5):317-23. doi: 10.1016/j.pediatrneurol.2012.06.002.
PMID:23044011
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