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benign familial neonatal convulsion相关文献:
The phenotypic spectrum of SCN2A-related epilepsy.
Reynolds C, King MD, Gorman KM.
Eur J Paediatr Neurol. 2020 Jan;24:117-122. doi: 10.1016/j.ejpn.2019.12.016. Epub 2019 Dec 12.
PMID:31924505
Neonatal Hyperbilirubinemia: Evaluation and Treatment.
Par EJ, Hughes CA, DeRico P.
Am Fam Physician. 2023 May;107(5):525-534.
PMID:37192079
Benign neonatal seizures.
Miles DK, Holmes GL.
J Clin Neurophysiol. 1990 Jul;7(3):369-79. doi: 10.1097/00004691-199007000-00004.
PMID:2211994
[Benign familial neonatal convulsion].
Yamagata T.
Ryoikibetsu Shokogun Shirizu. 2002;(37 Pt 6):54-7.
PMID:12483827
SCN2A-Related Epilepsy: The Phenotypic Spectrum, Treatment and Prognosis.
Zeng Q, Yang Y, Duan J, Niu X, Chen Y, Wang D, Zhang J, Chen J, Yang X, Li J, Yang Z, Jiang Y, Liao J, Zhang Y.
Front Mol Neurosci. 2022 Mar 30;15:809951. doi: 10.3389/fnmol.2022.809951. eCollection 2022.
PMID:35431799
Benign familial neonatal-infantile seizures.
Kaplan RE, Lacey DJ.
Am J Med Genet. 1983 Dec;16(4):595-9. doi: 10.1002/ajmg.1320160417.
PMID:6660252
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
Benign familial neonatal convulsions.
Bjerre I, Corelius E.
Acta Paediatr Scand. 1968 Nov;57(6):557-61. doi: 10.1111/j.1651-2227.1968.tb06980.x.
PMID:5706374
ILAE Genetic Literacy Series: Self-limited familial epilepsy syndromes with onset in neonatal age and infancy.
Millevert C, Weckhuysen S; ILAE Genetics Commission.
Epileptic Disord. 2023 Aug;25(4):445-453. doi: 10.1002/epd2.20026. Epub 2023 Jun 22.
PMID:36939707
The landscape of epilepsy-related GATOR1 variants.
Baldassari S, Picard F, Verbeek NE, van Kempen M, Brilstra EH, Lesca G, Conti V, Guerrini R, Bisulli F, Licchetta L, Pippucci T, Tinuper P, Hirsch E, de Saint Martin A, Chelly J, Rudolf G, Chipaux M, Ferrand-Sorbets S, Dorfmüller G, Sisodiya S, Balestrini S, Schoeler N, Hernandez-Hernandez L, Krithika S, Oegema R, Hagebeuk E, Gunning B, Deckers C, Berghuis B, Wegner I, Niks E, Jansen FE, Braun K, de Jong D, Rubboli G, Talvik I, Sander V, Uldall P, Jacquemont ML, Nava C, Leguern E, Julia S, Gambardella A, d'Orsi G, Crichiutti G, Faivre L, Darmency V, Benova B, Krsek P, Biraben A, Lebre AS, Jennesson M, Sattar S, Marchal C, Nordli DR Jr, Lindstrom K, Striano P, Lomax LB, Kiss C, Bartolomei F, Lepine AF, Schoonjans AS, Stouffs K, Jansen A, Panagiotakaki E, Ricard-Mousnier B, Thevenon J, de Bellescize J, Catenoix H, Dorn T, Zenker M, Müller-Schlüter K, Brandt C, Krey I, Polster T, Wolff M, Balci M, Rostasy K, Achaz G, Zacher P, Becher T, Cloppenborg T, Yuskaitis CJ, Weckhuysen S, Poduri A, Lemke JR, Møller RS, Baulac S.
Genet Med. 2019 Feb;21(2):398-408. doi: 10.1038/s41436-018-0060-2. Epub 2018 Aug 10.
PMID:30093711
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