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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: fejerman n. 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 in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.
Lee HY, Huang Y, Bruneau N, Roll P, Roberson ED, Hermann M, Quinn E, Maas J, Edwards R, Ashizawa T, Baykan B, Bhatia K, Bressman S, Bruno MK, Brunt ER, Caraballo R, Echenne B, Fejerman N, Frucht S, Gurnett CA, Hirsch E, Houlden H, Jankovic J, Lee WL, Lynch DR, Mohammed S, Müller U, Nespeca MP, Renner D, Rochette J, Rudolf G, Saiki S, Soong BW, Swoboda KJ, Tucker S, Wood N, Hanna M, Bowcock AM, Szepetowski P, Fu YH, Ptáček LJ. Lee HY, et al. Among authors: fejerman n. Cell Rep. 2012 Jan 26;1(1):2-12. doi: 10.1016/j.celrep.2011.11.001. Epub 2011 Dec 15. Cell Rep. 2012. PMID: 22832103 Free PMC article.
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: fejerman n. 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.
[Benign infantile familial convulsions].
Caraballo R, Cersósimo R, Galicchio S, Fejerman N. Caraballo R, et al. Among authors: fejerman n. Rev Neurol. 1997 May;25(141):682-4. Rev Neurol. 1997. PMID: 9206591 Spanish.
Dravet syndrome: a study of 53 patients.
Caraballo RH, Fejerman N. Caraballo RH, et al. Among authors: fejerman n. Epilepsy Res. 2006 Aug;70 Suppl 1:S231-8. doi: 10.1016/j.eplepsyres.2005.11.026. Epub 2006 Aug 8. Epilepsy Res. 2006. PMID: 16893627
Management of epilepsy in resource-limited settings.
Caraballo R, Fejerman N. Caraballo R, et al. Among authors: fejerman n. Epileptic Disord. 2015 Mar;17(1):13-8; quiz 18. doi: 10.1684/epd.2014.0721. Epileptic Disord. 2015. PMID: 25635346 Review.
100 results