174 related articles for article (PubMed ID: 34053869)
1. Genetics and gene therapy in Dravet syndrome.
Higurashi N; Broccoli V; Hirose S
Epilepsy Behav; 2022 Jun; 131(Pt B):108043. PubMed ID: 34053869
[TBL] [Abstract][Full Text] [Related]
2. Genetic therapeutic advancements for Dravet Syndrome.
Chilcott E; Díaz JA; Bertram C; Berti M; Karda R
Epilepsy Behav; 2022 Jul; 132():108741. PubMed ID: 35653814
[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. 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]
5. Genetic Diagnosis of Dravet Syndrome Using Next Generation Sequencing-Based Epilepsy Gene Panel Testing.
Lee J; Lee C; Park WY; Lee J
Ann Clin Lab Sci; 2020 Sep; 50(5):625-637. PubMed ID: 33067208
[TBL] [Abstract][Full Text] [Related]
6. Cell-Selective Adeno-Associated Virus-Mediated
Tanenhaus A; Stowe T; Young A; McLaughlin J; Aeran R; Lin IW; Li J; Hosur R; Chen M; Leedy J; Chou T; Pillay S; Vila MC; Kearney JA; Moorhead M; Belle A; Tagliatela S
Hum Gene Ther; 2022 Jun; 33(11-12):579-597. PubMed ID: 35435735
[TBL] [Abstract][Full Text] [Related]
7. A novel variant in SCN1A gene associated with Dravet syndrome.
Pathirana B; Hettiarachchi D; Neththikumara NF; Ratnayake PD; Dissanayake V
Seizure; 2019 Jul; 69():213-214. PubMed ID: 31102827
[No Abstract] [Full Text] [Related]
8. 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]
9. CRISPR/dCas9-based Scn1a gene activation in inhibitory neurons ameliorates epileptic and behavioral phenotypes of Dravet syndrome model mice.
Yamagata T; Raveau M; Kobayashi K; Miyamoto H; Tatsukawa T; Ogiwara I; Itohara S; Hensch TK; Yamakawa K
Neurobiol Dis; 2020 Jul; 141():104954. PubMed ID: 32445790
[TBL] [Abstract][Full Text] [Related]
10. Outcomes and comorbidities of SCN1A-related seizure disorders.
de Lange IM; Gunning B; Sonsma ACM; van Gemert L; van Kempen M; Verbeek NE; Sinoo C; Nicolai J; Knoers NVAM; Koeleman BPC; Brilstra EH
Epilepsy Behav; 2019 Jan; 90():252-259. PubMed ID: 30527252
[TBL] [Abstract][Full Text] [Related]
11. Extending the Phenotype Related to
Marco-Hernández AV; Caro-Llopis A; Rubio Sánchez P; Martínez Martínez JC; Tomás Vila M; Monfort S; Martínez F
J Child Neurol; 2022 Apr; 37(5):340-350. PubMed ID: 35072530
[TBL] [Abstract][Full Text] [Related]
12. Generation of a human iPSC line (UUIGPi015-A) from a patient with Dravet syndrome and a 2.9 Mb deletion spanning SCN1A on chromosome 2.
Schuster J; de Guidi C; Tripathi R; Klar J; Dahl N
Stem Cell Res; 2022 Apr; 60():102712. PubMed ID: 35203050
[TBL] [Abstract][Full Text] [Related]
13. Novel mutations and phenotypes of epilepsy-associated genes in epileptic encephalopathies.
Zhou P; He N; Zhang JW; Lin ZJ; Wang J; Yan LM; Meng H; Tang B; Li BM; Liu XR; Shi YW; Zhai QX; Yi YH; Liao WP
Genes Brain Behav; 2018 Nov; 17(8):e12456. PubMed ID: 29314583
[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. Mapping genetic modifiers of survival in a mouse model of Dravet syndrome.
Miller AR; Hawkins NA; McCollom CE; Kearney JA
Genes Brain Behav; 2014 Feb; 13(2):163-72. PubMed ID: 24152123
[TBL] [Abstract][Full Text] [Related]
16. The incidence of SCN1A-related Dravet syndrome in Denmark is 1:22,000: a population-based study from 2004 to 2009.
Bayat A; Hjalgrim H; Møller RS
Epilepsia; 2015 Apr; 56(4):e36-9. PubMed ID: 25778844
[TBL] [Abstract][Full Text] [Related]
17. Phenotypic spectrum of the SCN1A mutation (from febrile seizures to Dravet syndrome).
Ceska K; Danhofer P; Horak O; Spanelova K; Kolar S; Oslejskova H; Aulicka S
Bratisl Lek Listy; 2022; 123(7):483-486. PubMed ID: 35907053
[TBL] [Abstract][Full Text] [Related]
18. The MinION as a cost-effective technology for diagnostic screening of the SCN1A gene in epilepsy patients.
Ngo TTD; Lea RA; Maksemous N; Eccles DA; Smith RA; Dunn PJ; Thao VC; Ha TMT; Bùi CB; Haupt LM; Scott R; Griffiths LR
Epilepsy Res; 2021 May; 172():106593. PubMed ID: 33721710
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Mosaicism of de novo pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes.
de Lange IM; Koudijs MJ; van 't Slot R; Gunning B; Sonsma ACM; van Gemert LJJM; Mulder F; Carbo EC; van Kempen MJA; Verbeek NE; Nijman IJ; Ernst RF; Savelberg SMC; Knoers NVAM; Brilstra EH; Koeleman BPC
Epilepsia; 2018 Mar; 59(3):690-703. PubMed ID: 29460957
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]