168 related articles for article (PubMed ID: 38008000)
1. 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]
2. Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort.
Rochtus A; Olson HE; Smith L; Keith LG; El Achkar C; Taylor A; Mahida S; Park M; Kelly M; Shain C; Rockowitz S; Rosen Sheidley B; Poduri A
Epilepsia; 2020 Feb; 61(2):249-258. PubMed ID: 31957018
[TBL] [Abstract][Full Text] [Related]
3. Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.
;
Am J Hum Genet; 2021 Jun; 108(6):965-982. PubMed ID: 33932343
[TBL] [Abstract][Full Text] [Related]
4. Exome data of developmental and epileptic encephalopathy patients reveals de novo and inherited pathologic variants in epilepsy-associated genes.
Çapan ÖY; Yapıcı Z; Özbil M; Çağlayan HS
Seizure; 2024 Mar; 116():51-64. PubMed ID: 37353388
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. Whole-exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late.
Minardi R; Licchetta L; Baroni MC; Pippucci T; Stipa C; Mostacci B; Severi G; Toni F; Bergonzini L; Carelli V; Seri M; Tinuper P; Bisulli F
Clin Genet; 2020 Nov; 98(5):477-485. PubMed ID: 32725632
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Expanding the genotype-phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathy.
Kanani F; Titheradge H; Cooper N; Elmslie F; Lees MM; Juusola J; Pisani L; McKenna C; Mignot C; Valence S; Keren B; Lachlan K; ; Balasubramanian M
Am J Med Genet A; 2020 Apr; 182(4):713-720. PubMed ID: 31926053
[TBL] [Abstract][Full Text] [Related]
10. The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children.
Elkhateeb N; Issa MY; Elbendary HM; Elnaggar W; Ramadan A; Rafat K; Kamel M; Abdel-Ghafar SF; Amer F; Hassaan HM; Trunzo R; Pereira C; Abdel-Hamid MS; D'Arco F; Bauer P; Bertoli-Avella AM; Girgis M; Gleeson JG; Zaki MS; Selim L
Clin Genet; 2024 May; 105(5):510-522. PubMed ID: 38221827
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. Recent advances in epilepsy genomics and genetic testing.
Hebbar M; Mefford HC
F1000Res; 2020; 9():. PubMed ID: 32201576
[TBL] [Abstract][Full Text] [Related]
14. Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals.
;
Am J Hum Genet; 2019 Aug; 105(2):267-282. PubMed ID: 31327507
[TBL] [Abstract][Full Text] [Related]
15. De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies.
Manivannan SN; Roovers J; Smal N; Myers CT; Turkdogan D; Roelens F; Kanca O; Chung HL; Scholz T; Hermann K; Bierhals T; Caglayan HS; Stamberger H; ; Mefford H; de Jonghe P; Yamamoto S; Weckhuysen S; Bellen HJ
Brain; 2022 Jun; 145(5):1684-1697. PubMed ID: 34788397
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge.
Musante L; Costa P; Zanus C; Faletra F; Murru FM; Bianco AM; La Bianca M; Ragusa G; Athanasakis E; d'Adamo AP; Carrozzi M; Gasparini P
Genes (Basel); 2022 Mar; 13(3):. PubMed ID: 35328054
[TBL] [Abstract][Full Text] [Related]
18. The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.
Papuc SM; Abela L; Steindl K; Begemann A; Simmons TL; Schmitt B; Zweier M; Oneda B; Socher E; Crowther LM; Wohlrab G; Gogoll L; Poms M; Seiler M; Papik M; Baldinger R; Baumer A; Asadollahi R; Kroell-Seger J; Schmid R; Iff T; Schmitt-Mechelke T; Otten K; Hackenberg A; Addor MC; Klein A; Azzarello-Burri S; Sticht H; Joset P; Plecko B; Rauch A
Eur J Hum Genet; 2019 Mar; 27(3):408-421. PubMed ID: 30552426
[TBL] [Abstract][Full Text] [Related]
19. Expanding the clinical phenotype and genetic spectrum of GEMIN5 disorders: Early-infantile developmental and epileptic encephalopathies.
Zhang J; Liu X; Zhu G; Wan L; Liang Y; Li N; Huang M; Yang G
Brain Behav; 2024 May; 14(5):e3535. PubMed ID: 38773790
[TBL] [Abstract][Full Text] [Related]
20. Novel homozygous AP3B2 mutations in four individuals with developmental and epileptic encephalopathy: A rare clinical entity.
Dilber C; Yücel G; Şahin Y
Clin Neurol Neurosurg; 2022 Dec; 223():107509. PubMed ID: 36356440
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
