Claes LR - Search Results

1

A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.

Singh NA, Pappas C, Dahle EJ, Claes LR, Pruess TH, De Jonghe P, Thompson J, Dixon M, Gurnett C, Peiffer A, White HS, Filloux F, Leppert MF. Singh NA, et al. Among authors: claes lr. PLoS Genet. 2009 Sep;5(9):e1000649. doi: 10.1371/journal.pgen.1000649. Epub 2009 Sep 18. PLoS Genet. 2009. PMID: 19763161 Free PMC article.

2

Severe epilepsy resulting from genetic interaction between Scn2a and Kcnq2.

Kearney JA, Yang Y, Beyer B, Bergren SK, Claes L, Dejonghe P, Frankel WN. Kearney JA, et al. Hum Mol Genet. 2006 Mar 15;15(6):1043-8. doi: 10.1093/hmg/ddl019. Epub 2006 Feb 7. Hum Mol Genet. 2006. PMID: 16464983

3

De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.

Claes L, Del-Favero J, Ceulemans B, Lagae L, Van Broeckhoven C, De Jonghe P. Claes L, et al. Am J Hum Genet. 2001 Jun;68(6):1327-32. doi: 10.1086/320609. Epub 2001 May 15. Am J Hum Genet. 2001. PMID: 11359211 Free PMC article.

4

A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy.

Audenaert D, Claes L, Ceulemans B, Löfgren A, Van Broeckhoven C, De Jonghe P. Audenaert D, et al. Neurology. 2003 Sep 23;61(6):854-6. doi: 10.1212/01.wnl.0000080362.55784.1c. Neurology. 2003. PMID: 14504340

5

Genome-wide linkage of febrile seizures and epilepsy to the FEB4 locus at 5q14.3-q23.1 and no MASS1 mutation.

Deprez L, Claes LR, Claeys KG, Audenaert D, Van Dyck T, Goossens D, Van Paesschen W, Del-Favero J, Van Broeckhoven C, De Jonghe P. Deprez L, et al. Among authors: claes lr. Hum Genet. 2006 Jan;118(5):618-25. doi: 10.1007/s00439-005-0077-x. Epub 2005 Nov 5. Hum Genet. 2006. PMID: 16273391

6

The SCN1A variant database: a novel research and diagnostic tool.

Claes LR, Deprez L, Suls A, Baets J, Smets K, Van Dyck T, Deconinck T, Jordanova A, De Jonghe P. Claes LR, et al. Hum Mutat. 2009 Oct;30(10):E904-20. doi: 10.1002/humu.21083. Hum Mutat. 2009. PMID: 19585586

7

[Clinical and genetic diagnosis of Dravet syndrome: report of 20 cases].

Siegler Z, Neuwirth M, Hegyi M, Paraicz E, Pálmafy B, Tegzes A, Barsi P, Karcagi V, Claes L, De Jonghe P, Herczegfalvi A, Fogarasi A. Siegler Z, et al. Ideggyogy Sz. 2008 Nov 30;61(11-12):402-8. Ideggyogy Sz. 2008. PMID: 19070316 Hungarian.

8

A novel susceptibility locus at 2p24 for generalised epilepsy with febrile seizures plus.

Audenaert D, Claes L, Claeys KG, Deprez L, Van Dyck T, Goossens D, Del-Favero J, Van Paesschen W, Van Broeckhoven C, De Jonghe P. Audenaert D, et al. J Med Genet. 2005 Dec;42(12):947-52. doi: 10.1136/jmg.2005.031393. Epub 2005 Apr 12. J Med Genet. 2005. PMID: 15827091 Free PMC article.

9

A novel GABRG2 mutation associated with febrile seizures.

Audenaert D, Schwartz E, Claeys KG, Claes L, Deprez L, Suls A, Van Dyck T, Lagae L, Van Broeckhoven C, Macdonald RL, De Jonghe P. Audenaert D, et al. Neurology. 2006 Aug 22;67(4):687-90. doi: 10.1212/01.wnl.0000230145.73496.a2. Neurology. 2006. PMID: 16924025 Clinical Trial.

10

A functional null mutation of SCN1B in a patient with Dravet syndrome.

Patino GA, Claes LR, Lopez-Santiago LF, Slat EA, Dondeti RS, Chen C, O'Malley HA, Gray CB, Miyazaki H, Nukina N, Oyama F, De Jonghe P, Isom LL. Patino GA, et al. Among authors: claes lr. J Neurosci. 2009 Aug 26;29(34):10764-78. doi: 10.1523/JNEUROSCI.2475-09.2009. J Neurosci. 2009. PMID: 19710327 Free PMC article.

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