165 related articles for article (PubMed ID: 35701389)
1. Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice.
Scheffer IE; Bennett CA; Gill D; de Silva MG; Boggs K; Marum J; Baker N; ; Palmer EE; Howell KB
Dev Med Child Neurol; 2023 Jan; 65(1):50-57. PubMed ID: 35701389
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.
Galer PD; Ganesan S; Lewis-Smith D; McKeown SE; Pendziwiat M; Helbig KL; Ellis CA; Rademacher A; Smith L; Poduri A; Seiffert S; von Spiczak S; Muhle H; van Baalen A; ; ; ; ; Thomas RH; Krause R; Weber Y; Helbig I
Am J Hum Genet; 2020 Oct; 107(4):683-697. PubMed ID: 32853554
[TBL] [Abstract][Full Text] [Related]
4. Utility of genetic testing in children with developmental and epileptic encephalopathy (DEE) at a tertiary hospital in South Africa: A prospective study.
Essajee F; Urban M; Smit L; Wilmshurst JM; Solomons R; van Toorn R; Moosa S
Seizure; 2022 Oct; 101():197-204. PubMed ID: 36084525
[TBL] [Abstract][Full Text] [Related]
5. Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies.
Valence S; Cochet E; Rougeot C; Garel C; Chantot-Bastaraud S; Lainey E; Afenjar A; Barthez MA; Bednarek N; Doummar D; Faivre L; Goizet C; Haye D; Heron B; Kemlin I; Lacombe D; Milh M; Moutard ML; Riant F; Robin S; Roubertie A; Sarda P; Toutain A; Villard L; Ville D; Billette de Villemeur T; Rodriguez D; Burglen L
Genet Med; 2019 Mar; 21(3):553-563. PubMed ID: 29997391
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Genetic convergence of developmental and epileptic encephalopathies and intellectual disability.
Carvill GL; Jansen S; Lacroix A; Zemel M; Mehaffey M; De Vries P; Brunner HG; Scheffer IE; De Vries BBA; Vissers LELM; Mefford HC
Dev Med Child Neurol; 2021 Dec; 63(12):1441-1447. PubMed ID: 34247411
[TBL] [Abstract][Full Text] [Related]
8. CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients.
Archer HL; Evans J; Edwards S; Colley J; Newbury-Ecob R; O'Callaghan F; Huyton M; O'Regan M; Tolmie J; Sampson J; Clarke A; Osborne J
J Med Genet; 2006 Sep; 43(9):729-34. PubMed ID: 16611748
[TBL] [Abstract][Full Text] [Related]
9. Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel.
Sedlackova L; Sterbova K; Vlckova M; Seeman P; Zarubova J; Marusic P; Krsek P; Krijtova H; Musilova A; Lassuthova P
Eur J Paediatr Neurol; 2024 Jan; 48():17-29. PubMed ID: 38008000
[TBL] [Abstract][Full Text] [Related]
10. Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results.
Gerald B; Ramsey K; Belnap N; Szelinger S; Siniard AL; Balak C; Russell M; Richholt R; De Both M; Claasen AM; Schrauwen I; Huentelman MJ; Craig DW; Rangasamy S; Narayanan V
Semin Pediatr Neurol; 2018 Jul; 26():28-32. PubMed ID: 29961512
[TBL] [Abstract][Full Text] [Related]
11. The utility of whole exome sequencing for identification of the molecular etiology in autosomal recessive developmental and epileptic encephalopathies.
Isik E; Yilmaz S; Atik T; Aktan G; Onay H; Gokben S; Ozkinay F
Neurol Sci; 2020 Dec; 41(12):3729-3739. PubMed ID: 32705489
[TBL] [Abstract][Full Text] [Related]
12. Chromosomal microarray and exome sequencing in unexplained early infantile epileptic encephalopathies in a highly consanguineous population.
Turkdogan D; Turkyilmaz A; Sager G; Ozturk G; Unver O; Say M
Int J Neurosci; 2023 Jul; 133(7):683-700. PubMed ID: 34380004
[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. Phenotypic spectrum and long-term outcome of children with genetic early-infantile-onset developmental and epileptic encephalopathy.
Hu C; Liu D; Luo T; Wang Y; Liu Z
Epileptic Disord; 2022 Apr; 24(2):343-352. PubMed ID: 34859793
[TBL] [Abstract][Full Text] [Related]
15. Whole Exome Sequencing as a First-Line Molecular Genetic Test in Developmental and Epileptic Encephalopathies.
Vetri L; Calì F; Saccone S; Vinci M; Chiavetta NV; Carotenuto M; Roccella M; Costanza C; Elia M
Int J Mol Sci; 2024 Jan; 25(2):. PubMed ID: 38256219
[TBL] [Abstract][Full Text] [Related]
16. A retrospective study of the yield of next-generation sequencing in the diagnosis of developmental and epileptic encephalopathies and epileptic encephalopathies in 0-12 years aged children at a single tertiary care hospital in South India.
Murthy MC; Banerjee B; Shetty M; Mariappan M; Sekhsaria A
Epileptic Disord; 2024 Jun; ():. PubMed ID: 38923778
[TBL] [Abstract][Full Text] [Related]
17. Health care concerns in parents of children with different genetic developmental and epileptic encephalopathies: A qualitative study.
Palacios-Ceña D; Güeita-Rodríguez J; Gil-Nagel A; Jimenez-Antona C; García-Bravo C; Velarde-García JF; Cuenca-Zaldivar JN; Aledo-Serrano Á
Dev Med Child Neurol; 2024 Feb; 66(2):195-205. PubMed ID: 37482918
[TBL] [Abstract][Full Text] [Related]
18. Clinical next generation sequencing in developmental and epileptic encephalopathies: Diagnostic relevance of data re-analysis and variants re-interpretation.
Salinas V; Martínez N; Maturo JP; Rodriguez-Quiroga SA; Zavala L; Medina N; Amartino H; Sfaello I; Agosta G; Serafín EM; Morón DG; Kauffman MA; Vega P
Eur J Med Genet; 2021 Dec; 64(12):104363. PubMed ID: 34673242
[TBL] [Abstract][Full Text] [Related]
19. De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy.
Sega AG; Mis EK; Lindstrom K; Mercimek-Andrews S; Ji W; Cho MT; Juusola J; Konstantino M; Jeffries L; Khokha MK; Lakhani SA
J Med Genet; 2019 Feb; 56(2):113-122. PubMed ID: 30323019
[TBL] [Abstract][Full Text] [Related]
20. Exome sequencing reveals new causal mutations in children with epileptic encephalopathies.
Veeramah KR; Johnstone L; Karafet TM; Wolf D; Sprissler R; Salogiannis J; Barth-Maron A; Greenberg ME; Stuhlmann T; Weinert S; Jentsch TJ; Pazzi M; Restifo LL; Talwar D; Erickson RP; Hammer MF
Epilepsia; 2013 Jul; 54(7):1270-81. PubMed ID: 23647072
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
