635 related articles for article (PubMed ID: 28794249)
1. Not all
Sadleir LG; Mountier EI; Gill D; Davis S; Joshi C; DeVile C; Kurian MA; ; Mandelstam S; Wirrell E; Nickels KC; Murali HR; Carvill G; Myers CT; Mefford HC; Scheffer IE
Neurology; 2017 Sep; 89(10):1035-1042. PubMed ID: 28794249
[TBL] [Abstract][Full Text] [Related]
2. Beyond Dravet Syndrome: Characterization of a Novel, More Severe SCN1A-Linked Epileptic Encephalopathy.
Beck VC; Hull JM; Isom LL
Epilepsy Curr; 2019; 19(4):266-268. PubMed ID: 31257984
[TBL] [Abstract][Full Text] [Related]
3. 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; 145(11):3816-3831. PubMed ID: 35696452
[TBL] [Abstract][Full Text] [Related]
4. Infantile epileptic encephalopathy with a hyperkinetic movement disorder and hand stereotypies associated with a novel SCN1A mutation.
Ohashi T; Akasaka N; Kobayashi Y; Magara S; Kawashima H; Matsumoto N; Saitsu H; Tohyama J
Epileptic Disord; 2014 Jun; 16(2):208-12. PubMed ID: 24776920
[TBL] [Abstract][Full Text] [Related]
5. Defining Dravet syndrome: An essential pre-requisite for precision medicine trials.
Li W; Schneider AL; Scheffer IE
Epilepsia; 2021 Sep; 62(9):2205-2217. PubMed ID: 34338318
[TBL] [Abstract][Full Text] [Related]
6. From focal epilepsy to Dravet syndrome--Heterogeneity of the phenotype due to SCN1A mutations of the p.Arg1596 amino acid residue in the Nav1.1 subunit.
Hoffman-Zacharska D; Szczepanik E; Terczynska I; Goszczanska-Ciuchta A; Zalewska-Miszkurka Z; Tataj R; Bal J
Neurol Neurochir Pol; 2015; 49(4):258-66. PubMed ID: 26188943
[TBL] [Abstract][Full Text] [Related]
7. [Phenotype and SCN1A gene mutation screening in 39 families with generalized epilepsy with febrile seizures plus].
Xu XJ; Zhang YH; Sun HH; Liu XY; Wu HS; Wu XR
Zhonghua Er Ke Za Zhi; 2012 Aug; 50(8):580-6. PubMed ID: 23158734
[TBL] [Abstract][Full Text] [Related]
8. SCN1A-related phenotypes: Epilepsy and beyond.
Scheffer IE; Nabbout R
Epilepsia; 2019 Dec; 60 Suppl 3():S17-S24. PubMed ID: 31904117
[TBL] [Abstract][Full Text] [Related]
9. Epilepsy phenotype associated with a chromosome 2q24.3 deletion involving SCN1A: Migrating partial seizures of infancy or atypical Dravet syndrome?
Lim BC; Hwang H; Kim H; Chae JH; Choi J; Kim KJ; Hwang YS; Yum MS; Ko TS
Epilepsy Res; 2015 Jan; 109():34-9. PubMed ID: 25524840
[TBL] [Abstract][Full Text] [Related]
10. Homozygous mutations in the SCN1A gene associated with genetic epilepsy with febrile seizures plus and Dravet syndrome in 2 families.
Brunklaus A; Ellis R; Stewart H; Aylett S; Reavey E; Jefferson R; Jain R; Chakraborty S; Jayawant S; Zuberi SM
Eur J Paediatr Neurol; 2015 Jul; 19(4):484-8. PubMed ID: 25795284
[TBL] [Abstract][Full Text] [Related]
11. Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis: A case report with a novel missense variant of SCN1A.
Okubo Y; Shibuya M; Nakamura H; Kawashima A; Kodama K; Endo W; Inui T; Togashi N; Aihara Y; Shirota M; Funayama R; Niihori T; Fujita A; Nakayama K; Aoki Y; Matsumoto N; Kure S; Kikuchi A; Haginoya K
Brain Dev; 2023 Oct; 45(9):505-511. PubMed ID: 37442734
[TBL] [Abstract][Full Text] [Related]
12. Myoclonic Absence Seizures in Dravet Syndrome.
Myers KA; Scheffer IE
Pediatr Neurol; 2017 May; 70():67-69. PubMed ID: 28233668
[TBL] [Abstract][Full Text] [Related]
13. [Correlation between clinical phenotypes and genotypes among 46 children with SCN1A-related developmental epileptic encephalopathy].
Peng B; Zhu H; Tian Y; Li X; Wang X; Gao Y; Zhang Y; Shen H; Chen W
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Apr; 41(4):426-431. PubMed ID: 38565507
[TBL] [Abstract][Full Text] [Related]
14. Fine Mapping of a Dravet Syndrome Modifier Locus on Mouse Chromosome 5 and Candidate Gene Analysis by RNA-Seq.
Hawkins NA; Zachwieja NJ; Miller AR; Anderson LL; Kearney JA
PLoS Genet; 2016 Oct; 12(10):e1006398. PubMed ID: 27768696
[TBL] [Abstract][Full Text] [Related]
15. Incidence of Dravet Syndrome in a US Population.
Wu YW; Sullivan J; McDaniel SS; Meisler MH; Walsh EM; Li SX; Kuzniewicz MW
Pediatrics; 2015 Nov; 136(5):e1310-5. PubMed ID: 26438699
[TBL] [Abstract][Full Text] [Related]
16. Genetic epilepsies with febrile seizures plus: clinical spectrum of Polish patients with SCN1A mutation - preliminary report.
Terczyńska I; Szczepanik E; Duszyc K; Górka P; Tataj R; Hoffman-Zacharska D
Dev Period Med; 2014; 18(4):426-31. PubMed ID: 25874779
[TBL] [Abstract][Full Text] [Related]
17. De novo SCN1A pathogenic variants in the GEFS+ spectrum: Not always a familial syndrome.
Myers KA; Burgess R; Afawi Z; Damiano JA; Berkovic SF; Hildebrand MS; Scheffer IE
Epilepsia; 2017 Feb; 58(2):e26-e30. PubMed ID: 28084635
[TBL] [Abstract][Full Text] [Related]
18. Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome.
Kwong AK; Fung CW; Chan SY; Wong VC
PLoS One; 2012; 7(7):e41802. PubMed ID: 22848613
[TBL] [Abstract][Full Text] [Related]
19. Dravet syndrome as part of the clinical and genetic spectrum of sodium channel epilepsies and encephalopathies.
Mei D; Cetica V; Marini C; Guerrini R
Epilepsia; 2019 Dec; 60 Suppl 3():S2-S7. PubMed ID: 31904125
[TBL] [Abstract][Full Text] [Related]
20. SCN1A testing for epilepsy: application in clinical practice.
Hirose S; Scheffer IE; Marini C; De Jonghe P; Andermann E; Goldman AM; Kauffman M; Tan NC; Lowenstein DH; Sisodiya SM; Ottman R; Berkovic SF;
Epilepsia; 2013 May; 54(5):946-52. PubMed ID: 23586701
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
