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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: heron d. Neurol Genet. 2021 Nov 15;7(6):e613. doi: 10.1212/NXG.0000000000000613. eCollection 2021 Dec. Neurol Genet. 2021. PMID: 34790866 Free PMC article.
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Nava C, Keren B, Mignot C, Rastetter A, Chantot-Bastaraud S, Faudet A, Fonteneau E, Amiet C, Laurent C, Jacquette A, Whalen S, Afenjar A, Périsse D, Doummar D, Dorison N, Leboyer M, Siffroi JP, Cohen D, Brice A, Héron D, Depienne C. Nava C, et al. Among authors: heron d. Eur J Hum Genet. 2014 Jan;22(1):71-8. doi: 10.1038/ejhg.2013.88. Epub 2013 May 1. Eur J Hum Genet. 2014. PMID: 23632794 Free PMC article.
16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.
Reinthaler EM, Lal D, Lebon S, Hildebrand MS, Dahl HH, Regan BM, Feucht M, Steinböck H, Neophytou B, Ronen GM, Roche L, Gruber-Sedlmayr U, Geldner J, Haberlandt E, Hoffmann P, Herms S, Gieger C, Waldenberger M, Franke A, Wittig M, Schoch S, Becker AJ, Hahn A, Männik K, Toliat MR, Winterer G; 16p11.2 European Consortium; Lerche H, Nürnberg P, Mefford H, Scheffer IE, Berkovic SF, Beckmann JS; EPICURE Consortium; EuroEPINOMICS Consortium; Sander T, Jacquemont S, Reymond A, Zimprich F, Neubauer BA. Reinthaler EM, et al. Hum Mol Genet. 2014 Nov 15;23(22):6069-80. doi: 10.1093/hmg/ddu306. Epub 2014 Jun 16. Hum Mol Genet. 2014. PMID: 24939913 Free article.
Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life.
Thevenon J, Milh M, Feillet F, St-Onge J, Duffourd Y, Jugé C, Roubertie A, Héron D, Mignot C, Raffo E, Isidor B, Wahlen S, Sanlaville D, Villeneuve N, Darmency-Stamboul V, Toutain A, Lefebvre M, Chouchane M, Huet F, Lafon A, de Saint Martin A, Lesca G, El Chehadeh S, Thauvin-Robinet C, Masurel-Paulet A, Odent S, Villard L, Philippe C, Faivre L, Rivière JB. Thevenon J, et al. Among authors: heron d. Am J Hum Genet. 2014 Jul 3;95(1):113-20. doi: 10.1016/j.ajhg.2014.06.006. Am J Hum Genet. 2014. PMID: 24995870 Free PMC article.
WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation.
Mignot C, Lambert L, Pasquier L, Bienvenu T, Delahaye-Duriez A, Keren B, Lefranc J, Saunier A, Allou L, Roth V, Valduga M, Moustaïne A, Auvin S, Barrey C, Chantot-Bastaraud S, Lebrun N, Moutard ML, Nougues MC, Vermersch AI, Héron B, Pipiras E, Héron D, Olivier-Faivre L, Guéant JL, Jonveaux P, Philippe C. Mignot C, et al. Among authors: heron d, heron b. J Med Genet. 2015 Jan;52(1):61-70. doi: 10.1136/jmedgenet-2014-102748. Epub 2014 Nov 19. J Med Genet. 2015. PMID: 25411445
DYRK1A mutations in two unrelated patients.
Ruaud L, Mignot C, Guët A, Ohl C, Nava C, Héron D, Keren B, Depienne C, Benoit V, Maystadt I, Lederer D, Amsallem D, Piard J. Ruaud L, et al. Among authors: heron d. Eur J Med Genet. 2015 Mar;58(3):168-74. doi: 10.1016/j.ejmg.2014.12.014. Epub 2015 Jan 30. Eur J Med Genet. 2015. PMID: 25641759
GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia.
Coutelier M, Burglen L, Mundwiller E, Abada-Bendib M, Rodriguez D, Chantot-Bastaraud S, Rougeot C, Cournelle MA, Milh M, Toutain A, Bacq D, Meyer V, Afenjar A, Deleuze JF, Brice A, Héron D, Stevanin G, Durr A. Coutelier M, et al. Among authors: heron d. Neurology. 2015 Apr 28;84(17):1751-9. doi: 10.1212/WNL.0000000000001524. Epub 2015 Apr 3. Neurology. 2015. PMID: 25841024
Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.
Dimassi S, Labalme A, Ville D, Calender A, Mignot C, Boutry-Kryza N, de Bellescize J, Rivier-Ringenbach C, Bourel-Ponchel E, Cheillan D, Simonet T, Maincent K, Rossi M, Till M, Mougou-Zerelli S, Edery P, Saad A, Heron D, des Portes V, Sanlaville D, Lesca G. Dimassi S, et al. Among authors: heron d. Clin Genet. 2016 Feb;89(2):198-204. doi: 10.1111/cge.12636. Epub 2015 Jul 30. Clin Genet. 2016. PMID: 26138355
Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders.
Nava C, Rupp J, Boissel JP, Mignot C, Rastetter A, Amiet C, Jacquette A, Dupuits C, Bouteiller D, Keren B, Ruberg M, Faudet A, Doummar D, Philippe A, Périsse D, Laurent C, Lebrun N, Guillemot V, Chelly J, Cohen D, Héron D, Brice A, Closs EI, Depienne C. Nava C, et al. Among authors: heron d. Amino Acids. 2015 Dec;47(12):2647-58. doi: 10.1007/s00726-015-2057-3. Epub 2015 Jul 28. Amino Acids. 2015. PMID: 26215737 Free PMC article.
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