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Page 1
Epilepsy as part of the phenotype associated with ATP1A2 mutations.
Deprez L, Weckhuysen S, Peeters K, Deconinck T, Claeys KG, Claes LR, Suls A, Van Dyck T, Palmini A, Matthijs G, Van Paesschen W, De Jonghe P. Deprez L, et al. Epilepsia. 2008 Mar;49(3):500-8. doi: 10.1111/j.1528-1167.2007.01415.x. Epub 2007 Nov 19. Epilepsia. 2008. PMID: 18028407 Free article.
Novel frameshift and splice site mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with hereditary sensory neuropathy type IV.
Verpoorten N, Claeys KG, Deprez L, Jacobs A, Van Gerwen V, Lagae L, Arts WF, De Meirleir L, Keymolen K, Ceuterick-de Groote C, De Jonghe P, Timmerman V, Nelis E. Verpoorten N, et al. Among authors: deprez l. Neuromuscul Disord. 2006 Jan;16(1):19-25. doi: 10.1016/j.nmd.2005.10.007. Epub 2005 Dec 20. Neuromuscul Disord. 2006. PMID: 16373086
Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients.
Suls A, Claeys KG, Goossens D, Harding B, Van Luijk R, Scheers S, Deprez L, Audenaert D, Van Dyck T, Beeckmans S, Smouts I, Ceulemans B, Lagae L, Buyse G, Barisic N, Misson JP, Wauters J, Del-Favero J, De Jonghe P, Claes LR. Suls A, et al. Among authors: deprez l. Hum Mutat. 2006 Sep;27(9):914-20. doi: 10.1002/humu.20350. Hum Mutat. 2006. PMID: 16865694
Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.
Suls A, Dedeken P, Goffin K, Van Esch H, Dupont P, Cassiman D, Kempfle J, Wuttke TV, Weber Y, Lerche H, Afawi Z, Vandenberghe W, Korczyn AD, Berkovic SF, Ekstein D, Kivity S, Ryvlin P, Claes LR, Deprez L, Maljevic S, Vargas A, Van Dyck T, Goossens D, Del-Favero J, Van Laere K, De Jonghe P, Van Paesschen W. Suls A, et al. Among authors: deprez l. Brain. 2008 Jul;131(Pt 7):1831-44. doi: 10.1093/brain/awn113. Epub 2008 Jun 24. Brain. 2008. PMID: 18577546 Free PMC article.
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. Among authors: deprez l. Hum Mutat. 2009 Oct;30(10):E904-20. doi: 10.1002/humu.21083. Hum Mutat. 2009. PMID: 19585586
Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.
Suls A, Mullen SA, Weber YG, Verhaert K, Ceulemans B, Guerrini R, Wuttke TV, Salvo-Vargas A, Deprez L, Claes LR, Jordanova A, Berkovic SF, Lerche H, De Jonghe P, Scheffer IE. Suls A, et al. Among authors: deprez l. Ann Neurol. 2009 Sep;66(3):415-9. doi: 10.1002/ana.21724. Ann Neurol. 2009. PMID: 19798636
KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.
Weckhuysen S, Mandelstam S, Suls A, Audenaert D, Deconinck T, Claes LR, Deprez L, Smets K, Hristova D, Yordanova I, Jordanova A, Ceulemans B, Jansen A, Hasaerts D, Roelens F, Lagae L, Yendle S, Stanley T, Heron SE, Mulley JC, Berkovic SF, Scheffer IE, de Jonghe P. Weckhuysen S, et al. Among authors: deprez l. Ann Neurol. 2012 Jan;71(1):15-25. doi: 10.1002/ana.22644. Ann Neurol. 2012. PMID: 22275249
52 results