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severe myoclonic epilepsy in infant相关文献:
[Severe infant myoclonic epilepsy (author's transl)].
PMID:
Genetic therapeutic advancements for Dravet Syndrome.
Chilcott E, Díaz JA, Bertram C, Berti M, Karda R.
Epilepsy Behav. 2022 Jul;132:108741. doi: 10.1016/j.yebeh.2022.108741. Epub 2022 May 30.
PMID:35653814
Epilepsy in Angelman syndrome: A scoping review.
Samanta D.
Brain Dev. 2021 Jan;43(1):32-44. doi: 10.1016/j.braindev.2020.08.014. Epub 2020 Sep 4.
PMID:32893075
Epilepsy Syndromes in the First Year of Life and Usefulness of Genetic Testing for Precision Therapy.
Bayat A, Bayat M, Rubboli G, Møller RS.
Genes (Basel). 2021 Jul 8;12(7):1051. doi: 10.3390/genes12071051.
PMID:34356067
Genotype-phenotype associations in SCN1A-related epilepsies.
Zuberi SM, Brunklaus A, Birch R, Reavey E, Duncan J, Forbes GH.
Neurology. 2011 Feb 15;76(7):594-600. doi: 10.1212/WNL.0b013e31820c309b. Epub 2011 Jan 19.
PMID:21248271
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.
Brunklaus A, Brünger T, Feng T, Fons C, Lehikoinen A, Panagiotakaki E, Vintan MA, Symonds J, Andrew J, Arzimanoglou A, Delima S, Gallois J, Hanrahan D, Lesca G, MacLeod S, Marjanovic D, McTague A, Nuñez-Enamorado N, Perez-Palma E, Scott Perry M, Pysden K, Russ-Hall SJ, Scheffer IE, Sully K, Syrbe S, Vaher U, Velayutham M, Vogt J, Weiss S, Wirrell E, Zuberi SM, Lal D, Møller RS, Mantegazza M, Cestèle S.
Brain. 2022 Nov 21;145(11):3816-3831. doi: 10.1093/brain/awac210.
PMID:35696452
Cannabidiol in patients with treatment-resistant epilepsy: an open-label interventional trial.
Devinsky O, Marsh E, Friedman D, Thiele E, Laux L, Sullivan J, Miller I, Flamini R, Wilfong A, Filloux F, Wong M, Tilton N, Bruno P, Bluvstein J, Hedlund J, Kamens R, Maclean J, Nangia S, Singhal NS, Wilson CA, Patel A, Cilio MR.
Lancet Neurol. 2016 Mar;15(3):270-8. doi: 10.1016/S1474-4422(15)00379-8. Epub 2015 Dec 24.
PMID:26724101
Stiripentol : in severe myoclonic epilepsy of infancy (dravet syndrome).
Plosker GL.
CNS Drugs. 2012 Nov;26(11):993-1001. doi: 10.1007/s40263-012-0004-3.
PMID:23018548
Dravet syndrome (severe myoclonic epilepsy in infancy).
Dravet C, Oguni H.
Handb Clin Neurol. 2013;111:627-33. doi: 10.1016/B978-0-444-52891-9.00065-8.
PMID:23622210
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
Rinaldi B, Bayat A, Zachariassen LG, Sun JH, Ge YH, Zhao D, Bonde K, Madsen LH, Awad IAA, Bagiran D, Sbeih A, Shah SM, El-Sayed S, Lyngby SM, Pedersen MG, Stenum-Berg C, Walker LC, Krey I, Delahaye-Duriez A, Emrick LT, Sully K, Murali CN, Burrage LC, Plaud Gonzalez JA, Parnes M, Friedman J, Isidor B, Lefranc J, Redon S, Heron D, Mignot C, Keren B, Fradin M, Dubourg C, Mercier S, Besnard T, Cogne B, Deb W, Rivier C, Milani D, Bedeschi MF, Di Napoli C, Grilli F, Marchisio P, Koudijs S, Veenma D, Argilli E, Lynch SA, Au PYB, Ayala Valenzuela FE, Brown C, Masser-Frye D, Jones M, Patron Romero L, Li WL, Thorpe E, Hecher L, Johannsen J, Denecke J, McNiven V, Szuto A, Wakeling E, Cruz V, Sency V, Wang H, Piard J, Kortüm F, Herget T, Bierhals T, Condell A, Ben-Zeev B, Kaur S, Christodoulou J, Piton A, Zweier C, Kraus C, Micalizzi A, Trivisano M, Specchio N, Lesca G, Møller RS, Tümer Z, Musgaard M, Gerard B, Lemke JR, Shi YS, Kristensen AS.
Brain. 2024 May 3;147(5):1837-1855. doi: 10.1093/brain/awad403.
PMID:38038360
Myoclonic-astatic epilepsy.
Doose H.
Epilepsy Res Suppl. 1992;6:163-8.
PMID:1418479
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