210 related articles for article (PubMed ID: 32702657)
1. Molecular diagnosis of epileptic encephalopathy of the first year of life applying a customized gene panel in a group of Argentinean patients.
Juanes M; Veneruzzo G; Loos M; Reyes G; Araoz HV; Garcia FM; Gomez G; Alonso CN; Chertkoff LP; Caraballo R
Epilepsy Behav; 2020 Oct; 111():107322. PubMed ID: 32702657
[TBL] [Abstract][Full Text] [Related]
2. Clinical and genetic study of developmental and epileptic encephalopathy in Argentinean pediatric patients.
Juanes M; Loos M; Reyes G; Veneruzzo G; García FM; Aschettino G; Calligaris S; Martín ME; Foncuberta ME; Alonso CN; Caraballo RH
Medicina (B Aires); 2022; 82(6):856-865. PubMed ID: 36571524
[TBL] [Abstract][Full Text] [Related]
3. Genotype-phenotype correlates of infantile-onset developmental & epileptic encephalopathy syndromes in South India: A single centre experience.
Mitta N; Menon RN; McTague A; Radhakrishnan A; Sundaram S; Cherian A; Madhavilatha GK; Mannan AU; Nampoothiri S; Thomas SV
Epilepsy Res; 2020 Oct; 166():106398. PubMed ID: 32593896
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. The severe epilepsy syndromes of infancy: A population-based study.
Howell KB; Freeman JL; Mackay MT; Fahey MC; Archer J; Berkovic SF; Chan E; Dabscheck G; Eggers S; Hayman M; Holberton J; Hunt RW; Jacobs SE; Kornberg AJ; Leventer RJ; Mandelstam S; McMahon JM; Mefford HC; Panetta J; Riseley J; Rodriguez-Casero V; Ryan MM; Schneider AL; Smith LJ; Stark Z; Wong F; Yiu EM; Scheffer IE; Harvey AS
Epilepsia; 2021 Feb; 62(2):358-370. PubMed ID: 33475165
[TBL] [Abstract][Full Text] [Related]
6. Gene mutational analysis in a cohort of Chinese children with unexplained epilepsy: Identification of a new KCND3 phenotype and novel genes causing Dravet syndrome.
Wang J; Wen Y; Zhang Q; Yu S; Chen Y; Wu X; Zhang Y; Bao X
Seizure; 2019 Mar; 66():26-30. PubMed ID: 30776697
[TBL] [Abstract][Full Text] [Related]
7. West syndrome and other infantile epileptic encephalopathies--Indian hospital experience.
Kalra V; Gulati S; Pandey RM; Menon S
Brain Dev; 2001 Nov; 23(7):593-602. PubMed ID: 11701262
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Diagnostic Approach to Genetic Causes of Early-Onset Epileptic Encephalopathy.
Gürsoy S; Erçal D
J Child Neurol; 2016 Mar; 31(4):523-32. PubMed ID: 26271793
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Phenotypic spectrum of patients with GABRB2 variants: from mild febrile seizures to severe epileptic encephalopathy.
Yang Y; Xiangwei W; Zhang X; Xiao J; Chen J; Yang X; Jia T; Yang Z; Jiang Y; Zhang Y
Dev Med Child Neurol; 2020 Oct; 62(10):1213-1220. PubMed ID: 32686847
[TBL] [Abstract][Full Text] [Related]
12. [Genotypes and clinical features of neonatal-onset genetic epilepsy in 141 patients].
Chen JY; Yang Y; Niu XY; Zhang J; Chen Y; Yang XL; Yang ZX; Jiang YW; Zhang YH
Zhonghua Er Ke Za Zhi; 2021 Sep; 59(9):767-771. PubMed ID: 34645217
[No Abstract] [Full Text] [Related]
13. Common genes and recurrent causative variants in 957 Asian patients with pediatric epilepsy.
Kim SH; Seo J; Kwon SS; Teng LY; Won D; Shin S; Lee JS; Lee ST; Choi JR; Kang HC
Epilepsia; 2024 Mar; 65(3):766-778. PubMed ID: 38073125
[TBL] [Abstract][Full Text] [Related]
14. The Expanding Clinical Spectrum of Genetic Pediatric Epileptic Encephalopathies.
Shbarou R; Mikati MA
Semin Pediatr Neurol; 2016 May; 23(2):134-42. PubMed ID: 27544470
[TBL] [Abstract][Full Text] [Related]
15. Targeted gene panel and genotype-phenotype correlation in children with developmental and epileptic encephalopathy.
Ko A; Youn SE; Kim SH; Lee JS; Kim S; Choi JR; Kim HD; Lee ST; Kang HC
Epilepsy Res; 2018 Mar; 141():48-55. PubMed ID: 29455050
[TBL] [Abstract][Full Text] [Related]
16. [Genetically determined epileptic encephalopathies].
Appendino JP; Appendino JI
Medicina (B Aires); 2019; 79 Suppl 3():42-47. PubMed ID: 31603843
[TBL] [Abstract][Full Text] [Related]
17. Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy.
Na JH; Shin S; Yang D; Kim B; Kim HD; Kim S; Lee JS; Choi JR; Lee ST; Kang HC
Brain Dev; 2020 Jun; 42(6):438-448. PubMed ID: 32139178
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Early epileptic encephalopathies including West syndrome: a 3-year retrospective study from Klang Hospital, Malaysia.
Thambyayah M
Brain Dev; 2001 Nov; 23(7):603-4. PubMed ID: 11701263
[TBL] [Abstract][Full Text] [Related]
20. SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures.
Howell KB; McMahon JM; Carvill GL; Tambunan D; Mackay MT; Rodriguez-Casero V; Webster R; Clark D; Freeman JL; Calvert S; Olson HE; Mandelstam S; Poduri A; Mefford HC; Harvey AS; Scheffer IE
Neurology; 2015 Sep; 85(11):958-66. PubMed ID: 26291284
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]