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benign familial infantile epilepsy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
Benign familial infantile seizures.
Vigevano F.
Brain Dev. 2005 Apr;27(3):172-7. doi: 10.1016/j.braindev.2003.12.012.
PMID:15737697
Benign familial infantile epilepsy.
Lee WL, Low PS, Rajan U.
J Pediatr. 1993 Oct;123(4):588-90. doi: 10.1016/s0022-3476(05)80958-8.
PMID:8410514
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
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
International consensus on diagnosis and management of Dravet syndrome.
Wirrell EC, Hood V, Knupp KG, Meskis MA, Nabbout R, Scheffer IE, Wilmshurst J, Sullivan J.
Epilepsia. 2022 Jul;63(7):1761-1777. doi: 10.1111/epi.17274. Epub 2022 May 12.
PMID:35490361
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
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.
Marini C, Porro A, Rastetter A, Dalle C, Rivolta I, Bauer D, Oegema R, Nava C, Parrini E, Mei D, Mercer C, Dhamija R, Chambers C, Coubes C, Thévenon J, Kuentz P, Julia S, Pasquier L, Dubourg C, Carré W, Rosati A, Melani F, Pisano T, Giardino M, Innes AM, Alembik Y, Scheidecker S, Santos M, Figueiroa S, Garrido C, Fusco C, Frattini D, Spagnoli C, Binda A, Granata T, Ragona F, Freri E, Franceschetti S, Canafoglia L, Castellotti B, Gellera C, Milanesi R, Mancardi MM, Clark DR, Kok F, Helbig KL, Ichikawa S, Sadler L, Neupauerová J, Laššuthova P, Šterbová K, Laridon A, Brilstra E, Koeleman B, Lemke JR, Zara F, Striano P, Soblet J, Smits G, Deconinck N, Barbuti A, DiFrancesco D, LeGuern E, Guerrini R, Santoro B, Hamacher K, Thiel G, Moroni A, DiFrancesco JC, Depienne C.
Brain. 2018 Nov 1;141(11):3160-3178. doi: 10.1093/brain/awy263.
PMID:30351409
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
Clinical and genetic analysis of benign familial infantile epilepsy caused by PRRT2 gene variant.
Gu Y, Mei D, Wang X, Ma A, Kong J, Zhang Y.
Front Neurol. 2023 May 9;14:1135044. doi: 10.3389/fneur.2023.1135044. eCollection 2023.
PMID:37228410
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