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Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease.
Lesca G, Boutry-Kryza N, de Toffol B, Milh M, Steschenko D, Lemesle-Martin M, Maillard L, Foletti G, Rudolf G, Nielsen JE, á Rogvi-Hansen B, Erdal J, Mancini J, Thauvin-Robinet C, M'Rrabet A, Ville D, Szepetowski P, Raffo E, Hirsch E, Ryvlin P, Calender A, Genton P. Lesca G, et al. Among authors: genton p. Epilepsia. 2010 Sep;51(9):1691-8. doi: 10.1111/j.1528-1167.2010.02692.x. Epub 2010 Aug 5. Epilepsia. 2010. PMID: 20738377 Free article.
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link with autism.
Lesca G, Rudolf G, Labalme A, Hirsch E, Arzimanoglou A, Genton P, Motte J, de Saint Martin A, Valenti MP, Boulay C, De Bellescize J, Kéo-Kosal P, Boutry-Kryza N, Edery P, Sanlaville D, Szepetowski P. Lesca G, et al. Among authors: genton p. Epilepsia. 2012 Sep;53(9):1526-38. doi: 10.1111/j.1528-1167.2012.03559.x. Epub 2012 Jun 27. Epilepsia. 2012. PMID: 22738016 Free article.
Are c.436G>A mutations less severe forms of Lafora disease? A case report.
Lanoiselée HM, Genton P, Lesca G, Brault F, De Toffol B. Lanoiselée HM, et al. Among authors: genton p. Epilepsy Behav Case Rep. 2014 Jan 19;2:19-21. doi: 10.1016/j.ebcr.2013.11.003. eCollection 2014. Epilepsy Behav Case Rep. 2014. PMID: 25667860 Free PMC article.
PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine.
Cloarec R, Bruneau N, Rudolf G, Massacrier A, Salmi M, Bataillard M, Boulay C, Caraballo R, Fejerman N, Genton P, Hirsch E, Hunter A, Lesca G, Motte J, Roubertie A, Sanlaville D, Wong SW, Fu YH, Rochette J, Ptácek LJ, Szepetowski P. Cloarec R, et al. Among authors: genton p. Neurology. 2012 Nov 20;79(21):2097-103. doi: 10.1212/WNL.0b013e3182752c46. Epub 2012 Oct 17. Neurology. 2012. PMID: 23077017 Free PMC article.
Mutations of DEPDC5 cause autosomal dominant focal epilepsies.
Ishida S, Picard F, Rudolf G, Noé E, Achaz G, Thomas P, Genton P, Mundwiller E, Wolff M, Marescaux C, Miles R, Baulac M, Hirsch E, Leguern E, Baulac S. Ishida S, et al. Among authors: genton p. Nat Genet. 2013 May;45(5):552-5. doi: 10.1038/ng.2601. Epub 2013 Mar 31. Nat Genet. 2013. PMID: 23542701 Free PMC article.
Lafora disease.
Turnbull J, Tiberia E, Striano P, Genton P, Carpenter S, Ackerley CA, Minassian BA. Turnbull J, et al. Among authors: genton p. Epileptic Disord. 2016 Sep 1;18(S2):38-62. doi: 10.1684/epd.2016.0842. Epileptic Disord. 2016. PMID: 27702709 Free PMC article. Review.
217 results