1. 6q22.1 deletion is associated with epilepsy and abnormal movements. (June 2017) Authors: Schluth-Bolard, C.; Flamand-Roze, E.; Masurel, A.; Olivier-Faivre, L.; Callier, P.; Charles, P.; Keren, B.; Guillot, N.; Labalme, A.; Sanlaville, D.; Mochel, F.; Des Portes, V.; Lesca, G. Journal: European journal of paediatric neurology Issue: Volume 21(2017)Supplement 1 Page Start: e52 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Anti-tumor necrosis factor alpha therapy, Adalimumab, in Rasmussen's encephalitis. (June 2017) Authors: Villeneuve, N.; Lagarde, S.; Lepine, A.; Laguitton, V.; Bulteau, C.; Roubertie, A.; Barthez, M.A.; Trommsdorff, V.; Lefranc, J.; Des Portes, V.; Quartier, P.; Wehbi, S.; McGonigal, A.; Bartolomei, F.; Milh, M. Journal: European journal of paediatric neurology Issue: Volume 21(2017)Supplement 1 Page Start: e8 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. West syndrome due to compound heterozygous QARS mutations. (June 2017) Authors: Poulat, A.L.; Lesca, G.; Chatron, N.; Labalme, A.; Des Portes, V.; Sanlaville, D.; De Bellescize, J.; Ville, D. Journal: European journal of paediatric neurology Issue: Volume 21(2017)Supplement 1 Page Start: e99 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?. Issue 4 (16th February 2017) Authors: El Chehadeh, S.; Touraine, R.; Prieur, F.; Reardon, W.; Bienvenu, T.; Chantot‐Bastaraud, S.; Doco‐Fenzy, M.; Landais, E.; Philippe, C.; Marle, N.; Callier, P.; Mosca‐Boidron, A.‐L.; Mugneret, F.; Le Meur, N.; Goldenberg, A.; Guerrot, A.‐M.; Chambon, P.; Satre, V.; Coutton, C.; Jouk, P.‐S. Journal: Clinical genetics Issue: Volume 91:Issue 4(2017) Page Start: 576 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗