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neonatal epilepsy syndrome 相关文献:
ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions.
Zuberi SM, Wirrell E, Yozawitz E, Wilmshurst JM, Specchio N, Riney K, Pressler R, Auvin S, Samia P, Hirsch E, Galicchio S, Triki C, Snead OC, Wiebe S, Cross JH, Tinuper P, Scheffer IE, Perucca E, Moshé SL, Nabbout R.
Epilepsia. 2022 Jun;63(6):1349-1397. doi: 10.1111/epi.17239. Epub 2022 May 3.
PMID:35503712
Genetic Epilepsy Syndromes.
Myers KA.
Continuum (Minneap Minn). 2022 Apr 1;28(2):339-362. doi: 10.1212/CON.0000000000001077.
PMID:35393962
Recessive TMEM167A variants cause neonatal diabetes, microcephaly, and epilepsy syndrome.
Virgilio E, Tielens S, Bonfield G, Nian FS, Sawatani T, Vinci C, Govier M, Montaser H, Lartigue R, Arunagiri A, Liboz A, Da Silva FN, Lytrivi M, Papadopoulou T, Wakeling MN, Russ-Silsby J, Bowman P, Johnson MB, Laver TW, Piron A, Yi X, Fantuzzi F, Hendrickx S, Igoillo-Esteve M, Santacreu BJ, Suntharesan J, Ghildiyal R, Hegde D, Shah N, Acar S, Dönmez BÖ, Özkan B, Mohsin F, Talaat IM, Abbas MT, Abbas OT, Alghamdi HA, Kandemir N, Flanagan SE, Scharfmann R, Arvan P, Raoux M, Nguyen L, Hattersley AT, Cnop M, De Franco E.
J Clin Invest. 2025 Sep 9;135(22):e195756. doi: 10.1172/JCI195756. eCollection 2025 Nov 17.
PMID:40924476
Epidemiology of Developmental and Epileptic Encephalopathy and of Intellectual Disability and Epilepsy in Children.
Poke G, Stanley J, Scheffer IE, Sadleir LG.
Neurology. 2023 Mar 28;100(13):e1363-e1375. doi: 10.1212/WNL.0000000000206758. Epub 2022 Dec 29.
PMID:36581463
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
SMC1A epilepsy syndrome: clinical data from a large international cohort.
Gibellato E, Cianci P, Mariani M, Parma B, Huisman S, Śmigiel R, Bisgaard AM, Massa V, Gervasini C, Moretti A, Cattoni A, Biondi A, Selicorni A.
Am J Med Genet A. 2024 Jul;194(7):e63577. doi: 10.1002/ajmg.a.63577. Epub 2024 Feb 29.
PMID:38421079
Early-Life Epilepsies.
Akiyama LF, Saneto RP.
Pediatr Ann. 2023 Oct;52(10):e381-e387. doi: 10.3928/19382359-20230829-01. Epub 2023 Oct 1.
PMID:37820708
[Neonatal epileptics syndromes].
Guerrero Ruiz GDP.
Medicina (B Aires). 2024 Sep;84 Suppl 3:75-80.
PMID:39331780
New GABA-Targeting Therapies for the Treatment of Seizures and Epilepsy: II. Treatments in Clinical Development.
Perucca E, White HS, Bialer M.
CNS Drugs. 2023 Sep;37(9):781-795. doi: 10.1007/s40263-023-01025-4. Epub 2023 Aug 21.
PMID:37603261
Epileptic encephalopathy.
Dulac O.
Epilepsia. 2001;42 Suppl 3:23-6. doi: 10.1046/j.1528-1157.2001.042suppl.3023.x.
PMID:11520318
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