237 related articles for article (PubMed ID: 34717047)
1. Infantile-onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype.
de Valles-Ibáñez G; Hildebrand MS; Bahlo M; King C; Coleman M; Green TE; Goldsmith J; Davis S; Gill D; Mandelstam S; Scheffer IE; Sadleir LG
Epilepsia Open; 2022 Mar; 7(1):170-180. PubMed ID: 34717047
[TBL] [Abstract][Full Text] [Related]
2. Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report.
Walimbe AS; Machol K; Kralik SF; Mizerik EA; Gofin Y; Bekheirnia MR; Gijavanekar C; Elsea SH; Emrick LT; Scaglia F
BMC Neurol; 2024 Mar; 24(1):87. PubMed ID: 38438854
[TBL] [Abstract][Full Text] [Related]
3. [Early onset epileptic encephalopathy caused by mitochondrial arginyl-tRNA synthetase gene deficiency: report of two cases and literature review].
Jiang HF; Deng J; Fang F; Li H; Wang XH; Dai LF
Zhonghua Er Ke Za Zhi; 2020 Nov; 58(11):893-899. PubMed ID: 33120460
[No Abstract] [Full Text] [Related]
4. Clinical and genetic analysis of infants with pontocerebellar hypoplasia type 6 caused by RARS2 variations.
Zhao S; Lian R; Jin L; Li M; Jia T; Xu F; Du K; Wang L; Guo Q; Dong Y
Epilepsia Open; 2024 Feb; 9(1):250-257. PubMed ID: 38009286
[TBL] [Abstract][Full Text] [Related]
5. A term neonate with early myoclonic encephalopathy caused by
Xu Y; Wu BB; Wang HJ; Zhou SZ; Cheng GQ; Zhou YF
Transl Pediatr; 2020 Oct; 9(5):707-712. PubMed ID: 33209735
[TBL] [Abstract][Full Text] [Related]
6. A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome.
Nevanlinna V; Konovalova S; Ceulemans B; Muona M; Laari A; Hilander T; Gorski K; Valanne L; Anttonen AK; Tyynismaa H; Courage C; Lehesjoki AE
Eur J Med Genet; 2020 Mar; 63(3):103766. PubMed ID: 31536827
[TBL] [Abstract][Full Text] [Related]
7. RARS2 mutations in a sibship with infantile spasms.
Ngoh A; Bras J; Guerreiro R; Meyer E; McTague A; Dawson E; Mankad K; Gunny R; Clayton P; Mills PB; Thornton R; Lai M; Forsyth R; Kurian MA
Epilepsia; 2016 May; 57(5):e97-e102. PubMed ID: 27061686
[TBL] [Abstract][Full Text] [Related]
8. RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia.
Nishri D; Goldberg-Stern H; Noyman I; Blumkin L; Kivity S; Saitsu H; Nakashima M; Matsumoto N; Leshinsky-Silver E; Lerman-Sagie T; Lev D
Eur J Paediatr Neurol; 2016 May; 20(3):412-7. PubMed ID: 26970947
[TBL] [Abstract][Full Text] [Related]
9. PIGN encephalopathy: Characterizing the epileptology.
Bayat A; de Valles-Ibáñez G; Pendziwiat M; Knaus A; Alt K; Biamino E; Bley A; Calvert S; Carney P; Caro-Llopis A; Ceulemans B; Cousin J; Davis S; des Portes V; Edery P; England E; Ferreira C; Freeman J; Gener B; Gorce M; Heron D; Hildebrand MS; Jezela-Stanek A; Jouk PS; Keren B; Kloth K; Kluger G; Kuhn M; Lemke JR; Li H; Martinez F; Maxton C; Mefford HC; Merla G; Mierzewska H; Muir A; Monfort S; Nicolai J; Norman J; O'Grady G; Oleksy B; Orellana C; Orec LE; Peinhardt C; Pronicka E; Rosello M; Santos-Simarro F; Schwaibold EMC; Stegmann APA; Stumpel CT; Szczepanik E; Terczyńska I; Thevenon J; Tzschach A; Van Bogaert P; Vittorini R; Walsh S; Weckhuysen S; Weissman B; Wolfe L; Reymond A; De Nittis P; Poduri A; Olson H; Striano P; Lesca G; Scheffer IE; Møller RS; Sadleir LG
Epilepsia; 2022 Apr; 63(4):974-991. PubMed ID: 35179230
[TBL] [Abstract][Full Text] [Related]
10. Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients.
Cassandrini D; Cilio MR; Bianchi M; Doimo M; Balestri M; Tessa A; Rizza T; Sartori G; Meschini MC; Nesti C; Tozzi G; Petruzzella V; Piemonte F; Bisceglia L; Bruno C; Dionisi-Vici C; D'Amico A; Fattori F; Carrozzo R; Salviati L; Santorelli FM; Bertini E
J Inherit Metab Dis; 2013 Jan; 36(1):43-53. PubMed ID: 22569581
[TBL] [Abstract][Full Text] [Related]
11. Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia - further expansion of the phenotypic spectrum.
Lühl S; Bode H; Schlötzer W; Bartsakoulia M; Horvath R; Abicht A; Stenzel M; Kirschner J; Grünert SC
Orphanet J Rare Dis; 2016 Oct; 11(1):140. PubMed ID: 27769281
[TBL] [Abstract][Full Text] [Related]
12. Expanding spectrum of
Mathew T; Avati A; D'Souza D; Therambil M
Epilepsia Open; 2018 Jun; 3(2):270-275. PubMed ID: 29881806
[TBL] [Abstract][Full Text] [Related]
13. MED13 mutation: A novel cause of developmental and epileptic encephalopathy with infantile spasms.
Trivisano M; De Dominicis A; Micalizzi A; Ferretti A; Dentici ML; Terracciano A; Calabrese C; Vigevano F; Novelli G; Novelli A; Specchio N
Seizure; 2022 Oct; 101():211-217. PubMed ID: 36087421
[TBL] [Abstract][Full Text] [Related]
14. WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk.
Oliver KL; Trivisano M; Mandelstam SA; De Dominicis A; Francis DI; Green TE; Muir AM; Chowdhary A; Hertzberg C; Goldhahn K; Metreau J; Prager C; Pinner J; Cardamone M; Myers KA; Leventer RJ; Lesca G; Bahlo M; Hildebrand MS; Mefford HC; Kaindl AM; Specchio N; Scheffer IE
Epilepsia; 2023 May; 64(5):1351-1367. PubMed ID: 36779245
[TBL] [Abstract][Full Text] [Related]
15. FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability.
Schneider AL; Myers CT; Muir AM; Calvert S; Basinger A; Perry MS; Rodan L; Helbig KL; Chambers C; Gorman KM; King MD; Donkervoort S; Soldatos A; Bönnemann CG; Spataro N; Gabau E; Arellano M; Cappuccio G; Brunetti-Pierri N; Rossignol E; Hamdan FF; Michaud JL; Balak C; Mefford HC; Scheffer IE
Epilepsia; 2021 Jan; 62(1):e13-e21. PubMed ID: 33280099
[TBL] [Abstract][Full Text] [Related]
16. A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia.
Nicolle R; Altin N; Siquier-Pernet K; Salignac S; Blanc P; Munnich A; Bole-Feysot C; Malan V; Caron B; Nitschké P; Desguerre I; Boddaert N; Rio M; Rausell A; Cantagrel V
BMC Med Genomics; 2023 Jun; 16(1):143. PubMed ID: 37344844
[TBL] [Abstract][Full Text] [Related]
17. [Developmental and epileptic encephalopathy 85 caused by SMC1A gene truncating variation: 4 cases report and literature review].
Ye YZ; Duan J; Hu ZQ; Cao DZ; Liao JX; Chen L
Zhonghua Er Ke Za Zhi; 2022 Jun; 60(6):583-587. PubMed ID: 35658367
[No Abstract] [Full Text] [Related]
18.
Vlaskamp DRM; Shaw BJ; Burgess R; Mei D; Montomoli M; Xie H; Myers CT; Bennett MF; XiangWei W; Williams D; Maas SM; Brooks AS; Mancini GMS; van de Laar IMBH; van Hagen JM; Ware TL; Webster RI; Malone S; Berkovic SF; Kalnins RM; Sicca F; Korenke GC; van Ravenswaaij-Arts CMA; Hildebrand MS; Mefford HC; Jiang Y; Guerrini R; Scheffer IE
Neurology; 2019 Jan; 92(2):e96-e107. PubMed ID: 30541864
[TBL] [Abstract][Full Text] [Related]
19. Novel RARS2 Variants: Updating the Diagnosis and Pathogenesis of Pontocerebellar Hypoplasia Type 6.
Zhang Y; Yu Y; Zhao X; Xu Y; Chen L; Li N; Yao R; Wang J; Yu T
Pediatr Neurol; 2022 Jun; 131():30-41. PubMed ID: 35468344
[TBL] [Abstract][Full Text] [Related]
20. The molecular and phenotypic spectrum of IQSEC2-related epilepsy.
Zerem A; Haginoya K; Lev D; Blumkin L; Kivity S; Linder I; Shoubridge C; Palmer EE; Field M; Boyle J; Chitayat D; Gaillard WD; Kossoff EH; Willems M; Geneviève D; Tran-Mau-Them F; Epstein O; Heyman E; Dugan S; Masurel-Paulet A; Piton A; Kleefstra T; Pfundt R; Sato R; Tzschach A; Matsumoto N; Saitsu H; Leshinsky-Silver E; Lerman-Sagie T
Epilepsia; 2016 Nov; 57(11):1858-1869. PubMed ID: 27665735
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
