Szepetowski P - Search Results

1

New human sodium/glucose cotransporter gene (KST1): identification, characterization, and mutation analysis in ICCA (infantile convulsions and choreoathetosis) and BFIC (benign familial infantile convulsions) families.

Roll P, Massacrier A, Pereira S, Robaglia-Schlupp A, Cau P, Szepetowski P. Roll P, et al. Among authors: szepetowski p. Gene. 2002 Feb 20;285(1-2):141-8. doi: 10.1016/s0378-1119(02)00416-x. Gene. 2002. PMID: 12039040

2

Clinical and genetic analysis of a new multigenerational pedigree with GEFS+ (Generalized Epilepsy with Febrile Seizures Plus).

Gérard F, Pereira S, Robaglia-Schlupp A, Genton P, Szepetowski P. Gérard F, et al. Among authors: szepetowski p. Epilepsia. 2002 Jun;43(6):581-6. doi: 10.1046/j.1528-1157.2002.43001.x. Epilepsia. 2002. PMID: 12060016 Free article.

3

Epilepsy and ionic channels.

Roll P, Szepetowski P. Roll P, et al. Among authors: szepetowski p. Epileptic Disord. 2002 Sep;4(3):165-72. Epileptic Disord. 2002. PMID: 12446218 Free article. Review.

4

Complete loss of the cytoplasmic carboxyl terminus of the KCNQ2 potassium channel: a novel mutation in a large Czech pedigree with benign neonatal convulsions or other epileptic phenotypes.

Pereira S, Roll P, Krizova J, Genton P, Brazdil M, Kuba R, Cau P, Rektor I, Szepetowski P. Pereira S, et al. Among authors: szepetowski p. Epilepsia. 2004 Apr;45(4):384-90. doi: 10.1111/j.0013-9580.2004.47703.x. Epilepsia. 2004. PMID: 15030501 Free article.

5

Severe epilepsy, retardation, and dysmorphic features with a 2q deletion including SCN1A and SCN2A.

Pereira S, Vieira JP, Barroca F, Roll P, Carvalhas R, Cau P, Sequeira S, Genton P, Szepetowski P. Pereira S, et al. Among authors: szepetowski p. Neurology. 2004 Jul 13;63(1):191-2. doi: 10.1212/01.wnl.0000132844.20654.c1. Neurology. 2004. PMID: 15249644 No abstract available.

6

Large-scale expression study of human mesial temporal lobe epilepsy: evidence for dysregulation of the neurotransmission and complement systems in the entorhinal cortex.

Jamali S, Bartolomei F, Robaglia-Schlupp A, Massacrier A, Peragut JC, Régis J, Dufour H, Ravid R, Roll P, Pereira S, Royer B, Roeckel-Trevisiol N, Fontaine M, Guye M, Boucraut J, Chauvel P, Cau P, Szepetowski P. Jamali S, et al. Among authors: szepetowski p. Brain. 2006 Mar;129(Pt 3):625-41. doi: 10.1093/brain/awl001. Epub 2006 Jan 6. Brain. 2006. PMID: 16399808

7

SRPX2 mutations in disorders of language cortex and cognition.

Roll P, Rudolf G, Pereira S, Royer B, Scheffer IE, Massacrier A, Valenti MP, Roeckel-Trevisiol N, Jamali S, Beclin C, Seegmuller C, Metz-Lutz MN, Lemainque A, Delepine M, Caloustian C, de Saint Martin A, Bruneau N, Depétris D, Mattéi MG, Flori E, Robaglia-Schlupp A, Lévy N, Neubauer BA, Ravid R, Marescaux C, Berkovic SF, Hirsch E, Lathrop M, Cau P, Szepetowski P. Roll P, et al. Among authors: szepetowski p. Hum Mol Genet. 2006 Apr 1;15(7):1195-207. doi: 10.1093/hmg/ddl035. Epub 2006 Feb 23. Hum Mol Genet. 2006. PMID: 16497722

8

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.

9

Molecular evolution of the human SRPX2 gene that causes brain disorders of the Rolandic and Sylvian speech areas.

Royer B, Soares DC, Barlow PN, Bontrop RE, Roll P, Robaglia-Schlupp A, Blancher A, Levasseur A, Cau P, Pontarotti P, Szepetowski P. Royer B, et al. Among authors: szepetowski p. BMC Genet. 2007 Oct 18;8:72. doi: 10.1186/1471-2156-8-72. BMC Genet. 2007. PMID: 17942002 Free PMC article.

10

Nuclear localization of a novel human syntaxin 1B isoform.

Pereira S, Massacrier A, Roll P, Vérine A, Etienne-Grimaldi MC, Poitelon Y, Robaglia-Schlupp A, Jamali S, Roeckel-Trevisiol N, Royer B, Pontarotti P, Lévêque C, Seagar M, Lévy N, Cau P, Szepetowski P. Pereira S, et al. Among authors: szepetowski p. Gene. 2008 Nov 1;423(2):160-71. doi: 10.1016/j.gene.2008.07.010. Epub 2008 Jul 17. Gene. 2008. PMID: 18691641

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