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Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome.
Caraballo R, Pavek S, Lemainque A, Gastaldi M, Echenne B, Motte J, Genton P, Cersósimo R, Humbertclaude V, Fejerman N, Monaco AP, Lathrop MG, Rochette J, Szepetowski P. Caraballo R, et al. Among authors: szepetowski p. Am J Hum Genet. 2001 Mar;68(3):788-94. doi: 10.1086/318805. Epub 2001 Feb 13. Am J Hum Genet. 2001. PMID: 11179027 Free PMC article.
Epilepsy and deletions at chromosome 2q24.
Pereira S, Vieira JP, Cau P, Genton P, Szepetowski P. Pereira S, et al. Among authors: szepetowski p. Am J Med Genet A. 2006 Jun 15;140(12):1354-5. doi: 10.1002/ajmg.a.31299. Am J Med Genet A. 2006. PMID: 16700054 Free article. No abstract available.
Familial generalized epilepsy in Bulgarian Roma.
Tournev I, Royer B, Szepetowski P, Guergueltcheva V, Radionova M, Velizarova R, Yonova M, Lathrop M, Jamali S, Petkov R, Raycheva M, Genton P. Tournev I, et al. Among authors: szepetowski p. Epileptic Disord. 2007 Sep;9(3):300-6. doi: 10.1684/epd.2007.0125. Epub 2007 Sep 20. Epileptic Disord. 2007. PMID: 17884754 Free article.
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: szepetowski 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: szepetowski 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.
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: szepetowski 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.
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