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| De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies S Appenzeller, R Balling, N Barisic, S Baulac, H Caglayan, D Craiu, ... The American Journal of Human Genetics 95 (4), 360-370, 2014 | 317 | 2014 |
| The phenotypic spectrum of SCN8A encephalopathy J Larsen, GL Carvill, E Gardella, G Kluger, G Schmiedel, N Barisic, ... Neurology 84 (5), 480-489, 2015 | 286 | 2015 |
| De novo loss-or gain-of-function mutations in KCNA2 cause epileptic encephalopathy S Syrbe, U Hedrich, E Riesch, T Djémié, S Müller, RS Møller, B Maher, ... Nature genetics 47 (4), 393-399, 2015 | 283 | 2015 |
| De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome A Suls, JA Jaehn, A Kecskés, Y Weber, S Weckhuysen, DC Craiu, ... The American Journal of Human Genetics 93 (5), 967-975, 2013 | 247 | 2013 |
| De novo mutations in HCN1 cause early infantile epileptic encephalopathy C Nava, C Dalle, A Rastetter, P Striano, CGF de Kovel, R Nabbout, ... Nature genetics 46 (6), 640-645, 2014 | 245 | 2014 |
| Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy C Mignot, C Von Stülpnagel, C Nava, D Ville, D Sanlaville, G Lesca, ... Journal of medical genetics 53 (8), 511-522, 2016 | 167 | 2016 |
| Phenotypic spectrum of GABRA1 From generalized epilepsies to severe epileptic encephalopathies K Johannesen, C Marini, S Pfeffer, RS Møller, T Dorn, CE Niturad, ... Neurology 87 (11), 1140-1151, 2016 | 145 | 2016 |
| Co‐occurring malformations of cortical development and SCN1A gene mutations C Barba, E Parrini, R Coras, A Galuppi, D Craiu, G Kluger, A Parmeggiani, ... Epilepsia 55 (7), 1009-1019, 2014 | 113 | 2014 |
| Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe CL Bladen, R Thompson, JM Jackson, C Garland, C Wegel, A Ambrosini, ... Journal of neurology 261, 152-163, 2014 | 108 | 2014 |
| Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia K Hardies, CGF De Kovel, S Weckhuysen, B Asselbergh, T Geuens, ... Brain 138 (11), 3238-3250, 2015 | 98 | 2015 |
| CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures RH Thomas, LM Zhang, GL Carvill, JS Archer, SB Heavin, ... Neurology 84 (9), 951-958, 2015 | 98 | 2015 |
| The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome J Larsen, KM Johannesen, J Ek, S Tang, C Marini, S Blichfeldt, M Kibæk, ... Epilepsia 56 (12), e203-e208, 2015 | 97 | 2015 |
| Current use of imaging and electromagnetic source localization procedures in epilepsy surgery centers across Europe BE Mouthaan, M Rados, P Barsi, P Boon, DW Carmichael, E Carrette, ... Epilepsia 57 (5), 770-776, 2016 | 96 | 2016 |
| Ataxia rating scales are age‐dependent in healthy children R Brandsma, AH Spits, MJ Kuiper, RJ Lunsing, H Burger, HP Kremer, ... Developmental Medicine & Child Neurology 56 (6), 556-563, 2014 | 93 | 2014 |
| Current practices in long-term video-EEG monitoring services: a survey among partners of the E-PILEPSY pilot network of reference for refractory epilepsy and epilepsy surgery T Kobulashvili, J Höfler, J Dobesberger, F Ernst, P Ryvlin, JH Cross, ... Seizure 38, 38-45, 2016 | 83 | 2016 |
| Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline K Hardies, Y Cai, C Jardel, AC Jansen, M Cao, P May, T Djémié, ... Brain 139 (9), 2420-2430, 2016 | 76 | 2016 |
| Epilepsy in Rett syndrome—Lessons from the Rett networked database A Nissenkorn, RS Levy‐Drummer, O Bondi, A Renieri, L Villard, F Mari, ... Epilepsia 56 (4), 569-576, 2015 | 64 | 2015 |
| Testing patients during seizures: a European consensus procedure developed by a joint taskforce of the ILAE–Commission on European Affairs and the European Epilepsy Monitoring … S Beniczky, M Neufeld, B Diehl, J Dobesberger, E Trinka, ... Epilepsia 57 (9), 1363-1368, 2016 | 61 | 2016 |
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sarah weckhuysenApplied&Translational Neurogenomics Group, CMN-VIB AntwerpVerified email at uantwerpen.vib.be
