Szepetowski P - Search Results

1

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.

2

Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16.

Szepetowski P, Rochette J, Berquin P, Piussan C, Lathrop GM, Monaco AP. Szepetowski P, et al. Am J Hum Genet. 1997 Oct;61(4):889-98. doi: 10.1086/514877. Am J Hum Genet. 1997. PMID: 9382100 Free PMC article.

3

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.

4

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

5

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.

6

Benign familial infantile seizures: further delineation of the syndrome.

Caraballo RH, Cersósimo RO, Amartino H, Szepetowski P, Fejerman N. Caraballo RH, et al. Among authors: szepetowski p. J Child Neurol. 2002 Sep;17(9):696-9. doi: 10.1177/088307380201700909. J Child Neurol. 2002. PMID: 12503648

7

[GEFS + syndrome: phenotypic variations from the newborn to the adult in a large French pedigree].

Audic-Gerard F, Szepetowski P, Genton P. Audic-Gerard F, et al. Among authors: szepetowski p. Rev Neurol (Paris). 2003 Feb;159(2):189-95. Rev Neurol (Paris). 2003. PMID: 12660571 French.

8

PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome.

Donaldson MR, Jensen JL, Tristani-Firouzi M, Tawil R, Bendahhou S, Suarez WA, Cobo AM, Poza JJ, Behr E, Wagstaff J, Szepetowski P, Pereira S, Mozaffar T, Escolar DM, Fu YH, Ptácek LJ. Donaldson MR, et al. Among authors: szepetowski p. Neurology. 2003 Jun 10;60(11):1811-6. doi: 10.1212/01.wnl.0000072261.14060.47. Neurology. 2003. PMID: 12796536

9

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.

10

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.

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