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Page 1
PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum.
Johannesen KM, Gardella E, Gjerulfsen CE, Bayat A, Rouhl RPW, Reijnders M, Whalen S, Keren B, Buratti J, Courtin T, Wierenga KJ, Isidor B, Piton A, Faivre L, Garde A, Moutton S, Tran-Mau-Them F, Denommé-Pichon AS, Coubes C, Larson A, Esser MJ, Appendino JP, Al-Hertani W, Gamboni B, Mampel A, Mayorga L, Orsini A, Bonuccelli A, Suppiej A, Van-Gils J, Vogt J, Damioli S, Giordano L, Moortgat S, Wirrell E, Hicks S, Kini U, Noble N, Stewart H, Asakar S, Cohen JS, Naidu SR, Collier A, Brilstra EH, Li MH, Brew C, Bigoni S, Ognibene D, Ballardini E, Ruivenkamp C, Faggioli R, Afenjar A, Rodriguez D, Bick D, Segal D, Coman D, Gunning B, Devinsky O, Demmer LA, Grebe T, Pruna D, Cursio I, Greenhalgh L, Graziano C, Singh RR, Cantalupo G, Willems M, Yoganathan S, Góes F, Leventer RJ, Colavito D, Olivotto S, Scelsa B, Andrade AV, Ratke K, Tokarz F, Khan AS, Ormieres C, Benko W, Keough K, Keros S, Hussain S, Franques A, Varsalone F, Grønborg S, Mignot C, Heron D, Nava C, Isapof A, Borlot F, Whitney R, Ronan A, Foulds N, Somorai M, Brandsema J, Helbig KL, Helbig I, Ortiz-González XR, Dubbs H, Vitobello A, Anderson M, Spadafore D, Hunt D, Møller RS, Rubboli G; PURA study group. Johannesen KM, et al. Among authors: keros s. Neurol Genet. 2021 Nov 15;7(6):e613. doi: 10.1212/NXG.0000000000000613. eCollection 2021 Dec. Neurol Genet. 2021. PMID: 34790866 Free PMC article.
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
Reijnders MRF, Janowski R, Alvi M, Self JE, van Essen TJ, Vreeburg M, Rouhl RPW, Stevens SJC, Stegmann APA, Schieving J, Pfundt R, van Dijk K, Smeets E, Stumpel CTRM, Bok LA, Cobben JM, Engelen M, Mansour S, Whiteford M, Chandler KE, Douzgou S, Cooper NS, Tan EC, Foo R, Lai AHM, Rankin J, Green A, Lönnqvist T, Isohanni P, Williams S, Ruhoy I, Carvalho KS, Dowling JJ, Lev DL, Sterbova K, Lassuthova P, Neupauerová J, Waugh JL, Keros S, Clayton-Smith J, Smithson SF, Brunner HG, van Hoeckel C, Anderson M, Clowes VE, Siu VM, Ddd Study T, Selber P, Leventer RJ, Nellaker C, Niessing D, Hunt D, Baralle D. Reijnders MRF, et al. Among authors: keros s. J Med Genet. 2018 Feb;55(2):104-113. doi: 10.1136/jmedgenet-2017-104946. Epub 2017 Nov 2. J Med Genet. 2018. PMID: 29097605 Free PMC article. Review.
KCNMA1-linked channelopathy.
Bailey CS, Moldenhauer HJ, Park SM, Keros S, Meredith AL. Bailey CS, et al. Among authors: keros s. J Gen Physiol. 2019 Oct 7;151(10):1173-1189. doi: 10.1085/jgp.201912457. Epub 2019 Aug 19. J Gen Physiol. 2019. PMID: 31427379 Free PMC article. Review.
Cataplexy in Patients Harboring the KCNMA1 p.N999S Mutation.
Heim J, Vemuri A, Lewis S, Guida B, Troester M, Keros S, Meredith A, Kruer MC. Heim J, et al. Among authors: keros s. Mov Disord Clin Pract. 2020 Aug 21;7(7):861-862. doi: 10.1002/mdc3.13024. eCollection 2020 Oct. Mov Disord Clin Pract. 2020. PMID: 33043086 Free PMC article. No abstract available.
Increasing Ketamine Use for Refractory Status Epilepticus in US Pediatric Hospitals.
Keros S, Buraniqi E, Alex B, Antonetty A, Fialho H, Hafeez B, Jackson MC, Jawahar R, Kjelleren S, Stewart E, Morgan LA, Wainwright MS, Sogawa Y, Patel AD, Loddenkemper T, Grinspan ZM. Keros S, et al. J Child Neurol. 2017 Jun;32(7):638-646. doi: 10.1177/0883073817698629. Epub 2017 Mar 28. J Child Neurol. 2017. PMID: 28349774
16 results