171 related articles for article (PubMed ID: 37344571)
1. BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.
Engel C; Valence S; Delplancq G; Maroofian R; Accogli A; Agolini E; Alkuraya FS; Baglioni V; Bagnasco I; Becmeur-Lefebvre M; Bertini E; Borggraefe I; Brischoux-Boucher E; Bruel AL; Brusco A; Bubshait DK; Cabrol C; Cilio MR; Cornet MC; Coubes C; Danhaive O; Delague V; Denommé-Pichon AS; Di Giacomo MC; Doco-Fenzy M; Engels H; Cremer K; Gérard M; Gleeson JG; Heron D; Goffeney J; Guimier A; Harms FL; Houlden H; Iacomino M; Kaiyrzhanov R; Kamien B; Karimiani EG; Kraus D; Kuentz P; Kutsche K; Lederer D; Massingham L; Mignot C; Morris-Rosendahl D; Nagarajan L; Odent S; Ormières C; Partlow JN; Pasquier L; Penney L; Philippe C; Piccolo G; Poulton C; Putoux A; Rio M; Rougeot C; Salpietro V; Scheffer I; Schneider A; Srivastava S; Straussberg R; Striano P; Valente EM; Venot P; Villard L; Vitobello A; Wagner J; Wagner M; Zaki MS; Zara F; Lesca G; Yassaee VR; Miryounesi M; Hashemi-Gorji F; Beiraghi M; Ashrafzadeh F; Galehdari H; Walsh C; Novelli A; Tacke M; Sadykova D; Maidyrov Y; Koneev K; Shashkin C; Capra V; Zamani M; Van Maldergem L; Burglen L; Piard J
Eur J Hum Genet; 2023 Sep; 31(9):1023-1031. PubMed ID: 37344571
[TBL] [Abstract][Full Text] [Related]
2. BRAT1 mutations present with a spectrum of clinical severity.
Srivastava S; Olson HE; Cohen JS; Gubbels CS; Lincoln S; Davis BT; Shahmirzadi L; Gupta S; Picker J; Yu TW; Miller DT; Soul JS; Poretti A; Naidu S
Am J Med Genet A; 2016 Sep; 170(9):2265-73. PubMed ID: 27282546
[TBL] [Abstract][Full Text] [Related]
3. Clinical variability at the mild end of BRAT1-related spectrum: Evidence from two families with genotype-phenotype discordance.
Nuovo S; Baglioni V; De Mori R; Tardivo S; Caputi C; Ginevrino M; Micalizzi A; Masuelli L; Federici G; Casella A; Lorefice E; Anello D; Tolve M; Farini D; Bertini E; Zanni G; Travaglini L; Vasco G; Sette C; Carducci C; Valente EM; Leuzzi V
Hum Mutat; 2022 Jan; 43(1):67-73. PubMed ID: 34747546
[TBL] [Abstract][Full Text] [Related]
4. An intronic variant in BRAT1 creates a cryptic splice site, causing epileptic encephalopathy without prominent rigidity.
Colak FK; Guleray N; Azapagasi E; Yazıcı MU; Aksoy E; Ceylan N
Acta Neurol Belg; 2020 Dec; 120(6):1425-1432. PubMed ID: 33040300
[TBL] [Abstract][Full Text] [Related]
5. A review of the clinical spectrum of
Fowkes R; Elwan M; Akay E; Mitchell CJ; Thomas RH; Lewis-Smith D
Epilepsy Behav Rep; 2022; 19():100549. PubMed ID: 35620305
[TBL] [Abstract][Full Text] [Related]
6. Novel Biallelic Variant in the
Qi Y; Ji X; Ding H; Liu L; Zhang Y; Yin A
Front Genet; 2022; 13():821587. PubMed ID: 35360849
[TBL] [Abstract][Full Text] [Related]
7. BRAT1 Mutation Retrospective Diagnosis: A Case Report.
Vercellino F; Valerio M; Dusio MP; Spano A; D'Alfonso S
Cureus; 2023 Mar; 15(3):e35655. PubMed ID: 37009381
[TBL] [Abstract][Full Text] [Related]
8. Compound heterozygous loss-of-function variants in BRAT1 cause lethal neonatal rigidity and multifocal seizure syndrome.
Li S; Yu S; Zhang Y; Wang Y; Jiang X; Wu C
Mol Genet Genomic Med; 2023 Jan; 11(1):e2092. PubMed ID: 36367347
[TBL] [Abstract][Full Text] [Related]
9. Novel variant in BRAT1 with the lethal neonatal rigidity and multifocal seizure syndrome.
Li W; Wu S; Xu H; Zhao X; Pan Y; Huang H; Lv H; Zhu X; Liu Y
Pediatr Res; 2022 Feb; 91(3):565-571. PubMed ID: 33790413
[TBL] [Abstract][Full Text] [Related]
10. BRAT1-associated neurodegeneration: Intra-familial phenotypic differences in siblings.
Smith NJ; Lipsett J; Dibbens LM; Heron SE
Am J Med Genet A; 2016 Nov; 170(11):3033-3038. PubMed ID: 27480663
[TBL] [Abstract][Full Text] [Related]
11. A novel pathogenic variant of
Pourahmadiyan A; Heidari M; Shojaaldini Ardakani H; Noorian S; Savad S
Int J Neurosci; 2021 Sep; 131(9):875-878. PubMed ID: 32345087
[TBL] [Abstract][Full Text] [Related]
12. Lethal Neonatal Rigidity and Multifocal Seizure Syndrome--A Misnamed Disorder?
Hanes I; Kozenko M; Callen DJ
Pediatr Neurol; 2015 Dec; 53(6):535-40. PubMed ID: 26483087
[TBL] [Abstract][Full Text] [Related]
13. Inner retinal dystrophy in a patient with biallelic sequence variants in BRAT1.
Oatts JT; Duncan JL; Hoyt CS; Slavotinek AM; Moore AT
Ophthalmic Genet; 2017 Dec; 38(6):559-561. PubMed ID: 28635423
[TBL] [Abstract][Full Text] [Related]
14. Lethal neonatal rigidity and multifocal seizure syndrome with a new mutation in BRAT1.
Celik Y; Okuyaz C; Arslankoylu AE; Ceylaner S
Epilepsy Behav Case Rep; 2017; 8():31-32. PubMed ID: 28752061
[TBL] [Abstract][Full Text] [Related]
15. A Rare Case of Lethal Neonatal Rigidity and Multi-Focal Seizure Syndrome.
Balasundaram P; Fijas M; Nafday S
Cureus; 2021 Feb; 13(2):e13600. PubMed ID: 33816000
[TBL] [Abstract][Full Text] [Related]
16. BRAT1-related disease--identification of a patient without early lethality.
Mundy SA; Krock BL; Mao R; Shen JJ
Am J Med Genet A; 2016 Mar; 170(3):699-702. PubMed ID: 26494257
[TBL] [Abstract][Full Text] [Related]
17. BRAT1 Mutation: The First Reported Case of Chinese Origin and Review of the Literature.
Van Ommeren RH; Gao AF; Blaser SI; Chitayat DA; Hazrati LN
J Neuropathol Exp Neurol; 2018 Dec; 77(12):1071-1078. PubMed ID: 30346566
[TBL] [Abstract][Full Text] [Related]
18. BRAT1 encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizures.
Scheffer IE; Boysen KE; Schneider AL; Myers CT; Mehaffey MG; Rochtus AM; Yuen YP; Ronen GM; Chak WK; Gill D; Poduri A; Mefford HC
Dev Med Child Neurol; 2020 Sep; 62(9):1096-1099. PubMed ID: 31868227
[TBL] [Abstract][Full Text] [Related]
19. Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly.
Saitsu H; Yamashita S; Tanaka Y; Tsurusaki Y; Nakashima M; Miyake N; Matsumoto N
J Hum Genet; 2014 Dec; 59(12):687-90. PubMed ID: 25319849
[TBL] [Abstract][Full Text] [Related]
20. BRAT1 mutations are associated with infantile epileptic encephalopathy, mitochondrial dysfunction, and survival into childhood.
Horn D; Weschke B; Knierim E; Fischer-Zirnsak B; Stenzel W; Schuelke M; Zemojtel T
Am J Med Genet A; 2016 Sep; 170(9):2274-81. PubMed ID: 27282648
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]