513 related articles for article (PubMed ID: 28199897)
1. Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy.
Perucca P; Scheffer IE; Harvey AS; James PA; Lunke S; Thorne N; Gaff C; Regan BM; Damiano JA; Hildebrand MS; Berkovic SF; O'Brien TJ; Kwan P
Epilepsy Res; 2017 Mar; 131():1-8. PubMed ID: 28199897
[TBL] [Abstract][Full Text] [Related]
2. Diagnostic exome sequencing in non-acquired focal epilepsies highlights a major role of GATOR1 complex genes.
Krenn M; Wagner M; Hotzy C; Graf E; Weber S; Brunet T; Lorenz-Depiereux B; Kasprian G; Aull-Watschinger S; Pataraia E; Stogmann E; Zimprich A; Strom TM; Meitinger T; Zimprich F
J Med Genet; 2020 Sep; 57(9):624-633. PubMed ID: 32086284
[TBL] [Abstract][Full Text] [Related]
3. Novel variants in established epilepsy genes in focal epilepsy.
Kovačević M; Milićević O; Branković M; Janković M; Novaković I; Sokić D; Ristić A; Shamsani J; Vojvodić N
Seizure; 2023 Aug; 110():146-152. PubMed ID: 37390664
[TBL] [Abstract][Full Text] [Related]
4. SCN1A clinical spectrum includes the self-limited focal epilepsies of childhood.
Kivity S; Oliver KL; Afawi Z; Damiano JA; Arsov T; Bahlo M; Berkovic SF
Epilepsy Res; 2017 Mar; 131():9-14. PubMed ID: 28192756
[TBL] [Abstract][Full Text] [Related]
5. Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability.
Snoeijen-Schouwenaars FM; van Ool JS; Verhoeven JS; van Mierlo P; Braakman HMH; Smeets EE; Nicolai J; Schoots J; Teunissen MWA; Rouhl RPW; Tan IY; Yntema HG; Brunner HG; Pfundt R; Stegmann AP; Kamsteeg EJ; Schelhaas HJ; Willemsen MH
Epilepsia; 2019 Jan; 60(1):155-164. PubMed ID: 30525188
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia.
Weckhuysen S; Marsan E; Lambrecq V; Marchal C; Morin-Brureau M; An-Gourfinkel I; Baulac M; Fohlen M; Kallay Zetchi C; Seeck M; de la Grange P; Dermaut B; Meurs A; Thomas P; Chassoux F; Leguern E; Picard F; Baulac S
Epilepsia; 2016 Jun; 57(6):994-1003. PubMed ID: 27173016
[TBL] [Abstract][Full Text] [Related]
9. Tiered analysis of whole-exome sequencing for epilepsy diagnosis.
Dunn PJ; Maher BH; Albury CL; Stuart S; Sutherland HG; Maksemous N; Benton MC; Smith RA; Haupt LM; Griffiths LR
Mol Genet Genomics; 2020 May; 295(3):751-763. PubMed ID: 32146541
[TBL] [Abstract][Full Text] [Related]
10. DEPDC5 mutations in familial and sporadic focal epilepsy.
Tsai MH; Chan CK; Chang YC; Yu YT; Chuang ST; Fan WL; Li SC; Fu TY; Chang WN; Liou CW; Chuang YC; Ng CC; Hwang DY; Lim KS
Clin Genet; 2017 Oct; 92(4):397-404. PubMed ID: 28170089
[TBL] [Abstract][Full Text] [Related]
11. What is the impact of a novel DEPDC5 variant on an infant with focal epilepsy: a case report.
Gu C; Lu X; Ma J; Pu L; Zhi X; Shu J; Li D; Cai C
BMC Pediatr; 2022 Jul; 22(1):459. PubMed ID: 35907814
[TBL] [Abstract][Full Text] [Related]
12. DEPDC5 plays a vital role in epilepsy: Genotypic and phenotypic features in cohort and literature.
Gu C; Wei X; Yan D; Cai Y; Li D; Shu J; Cai C
Epileptic Disord; 2024 Jun; 26(3):341-349. PubMed ID: 38752894
[TBL] [Abstract][Full Text] [Related]
13. Diagnostic exome sequencing of syndromic epilepsy patients in clinical practice.
Tumienė B; Maver A; Writzl K; Hodžić A; Čuturilo G; Kuzmanić-Šamija R; Čulić V; Peterlin B
Clin Genet; 2018 May; 93(5):1057-1062. PubMed ID: 29286531
[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. A targeted resequencing gene panel for focal epilepsy.
Hildebrand MS; Myers CT; Carvill GL; Regan BM; Damiano JA; Mullen SA; Newton MR; Nair U; Gazina EV; Milligan CJ; Reid CA; Petrou S; Scheffer IE; Berkovic SF; Mefford HC
Neurology; 2016 Apr; 86(17):1605-12. PubMed ID: 27029629
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations.
Bonanni P; Malcarne M; Moro F; Veggiotti P; Buti D; Ferrari AR; Parrini E; Mei D; Volzone A; Zara F; Heron SE; Bordo L; Marini C; Guerrini R
Epilepsia; 2004 Feb; 45(2):149-58. PubMed ID: 14738422
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. A splicing variation in NPRL2 causing familial focal epilepsy with variable foci: additional cases and literature review.
Zhang J; Shen Y; Yang Z; Yang F; Li Y; Yu B; Chen W; Gan J
J Hum Genet; 2022 Feb; 67(2):79-85. PubMed ID: 34376795
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]