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Page 1
Duplications of 17q12 can cause familial fever-related epilepsy syndromes.
Hardies K, Weckhuysen S, Peeters E, Holmgren P, Van Esch H, De Jonghe P, Van Paesschen W, Suls A. Hardies K, et al. Among authors: de jonghe p. Neurology. 2013 Oct 15;81(16):1434-40. doi: 10.1212/WNL.0b013e3182a84163. Epub 2013 Sep 18. Neurology. 2013. PMID: 24049133
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: de jonghe p. Brain. 2008 Jul;131(Pt 7):1831-44. doi: 10.1093/brain/awn113. Epub 2008 Jun 24. Brain. 2008. PMID: 18577546 Free PMC article.
PRRT2 mutations: exploring the phenotypical boundaries.
Djémié T, Weckhuysen S, Holmgren P, Hardies K, Van Dyck T, Hendrickx R, Schoonjans AS, Van Paesschen W, Jansen AC, De Meirleir L, Selim LA, Girgis MY, Buyse G, Lagae L, Smets K, Smouts I, Claeys KG, Van den Bergh V, Grisar T, Blatt I, Shorer Z, Roelens F, Afawi Z, Helbig I, Ceulemans B, De Jonghe P, Suls A. Djémié T, et al. Among authors: de meirleir l, de jonghe p. J Neurol Neurosurg Psychiatry. 2014 Apr;85(4):462-5. doi: 10.1136/jnnp-2013-305122. Epub 2013 Oct 7. J Neurol Neurosurg Psychiatry. 2014. PMID: 24101679
DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy.
Picard F, Makrythanasis P, Navarro V, Ishida S, de Bellescize J, Ville D, Weckhuysen S, Fosselle E, Suls A, De Jonghe P, Vasselon Raina M, Lesca G, Depienne C, An-Gourfinkel I, Vlaicu M, Baulac M, Mundwiller E, Couarch P, Combi R, Ferini-Strambi L, Gambardella A, Antonarakis SE, Leguern E, Steinlein O, Baulac S. Picard F, et al. Among authors: de jonghe p, de bellescize j. Neurology. 2014 Jun 10;82(23):2101-6. doi: 10.1212/WNL.0000000000000488. Epub 2014 May 9. Neurology. 2014. PMID: 24814846
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.
Schubert J, Siekierska A, Langlois M, May P, Huneau C, Becker F, Muhle H, Suls A, Lemke JR, de Kovel CG, Thiele H, Konrad K, Kawalia A, Toliat MR, Sander T, Rüschendorf F, Caliebe A, Nagel I, Kohl B, Kecskés A, Jacmin M, Hardies K, Weckhuysen S, Riesch E, Dorn T, Brilstra EH, Baulac S, Møller RS, Hjalgrim H, Koeleman BP; EuroEPINOMICS RES Consortium; Jurkat-Rott K, Lehman-Horn F, Roach JC, Glusman G, Hood L, Galas DJ, Martin B, de Witte PA, Biskup S, De Jonghe P, Helbig I, Balling R, Nürnberg P, Crawford AD, Esguerra CV, Weber YG, Lerche H. Schubert J, et al. Among authors: de kovel cg, de jonghe p, de witte pa. Nat Genet. 2014 Dec;46(12):1327-32. doi: 10.1038/ng.3130. Epub 2014 Nov 2. Nat Genet. 2014. PMID: 25362483
Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia.
Hardies K, de Kovel CG, Weckhuysen S, Asselbergh B, Geuens T, Deconinck T, Azmi A, May P, Brilstra E, Becker F, Barisic N, Craiu D, Braun KP, Lal D, Thiele H, Schubert J, Weber Y, van 't Slot R, Nürnberg P, Balling R, Timmerman V, Lerche H, Maudsley S, Helbig I, Suls A, Koeleman BP, De Jonghe P; autosomal recessive working group of the EuroEPINOMICS RES Consortium. Hardies K, et al. Among authors: de kovel cg, de jonghe p. Brain. 2015 Nov;138(Pt 11):3238-50. doi: 10.1093/brain/awv263. Epub 2015 Sep 17. Brain. 2015. PMID: 26384929
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. Among authors: de jonghe p. Neurology. 2006 Aug 22;67(4):687-90. doi: 10.1212/01.wnl.0000230145.73496.a2. Neurology. 2006. PMID: 16924025 Clinical Trial.
Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations.
Deprez L, Weckhuysen S, Holmgren P, Suls A, Van Dyck T, Goossens D, Del-Favero J, Jansen A, Verhaert K, Lagae L, Jordanova A, Van Coster R, Yendle S, Berkovic SF, Scheffer I, Ceulemans B, De Jonghe P. Deprez L, et al. Among authors: de jonghe p. Neurology. 2010 Sep 28;75(13):1159-65. doi: 10.1212/WNL.0b013e3181f4d7bf. Neurology. 2010. PMID: 20876469
389 results