A 600 kb deletion syndrome at 16p11. 2 leads to energy imbalance and neuropsychiatric disorders F Zufferey, EH Sherr, ND Beckmann, E Hanson, AM Maillard, L Hippolyte, ... Journal of medical genetics 49 (10), 660-668, 2012 | 315 | 2012 |
Defining the effect of the 16p11. 2 duplication on cognition, behavior, and medical comorbidities D D’Angelo, S Lebon, Q Chen, S Martin-Brevet, LAG Snyder, L Hippolyte, ... JAMA psychiatry 73 (1), 20-30, 2016 | 238 | 2016 |
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications KM Johannesen, Y Liu, M Koko, CE Gjerulfsen, L Sonnenberg, J Schubert, ... Brain 145 (9), 2991-3009, 2022 | 100 | 2022 |
16p11. 2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy EM Reinthaler, D Lal, S Lebon, MS Hildebrand, HHM Dahl, BM Regan, ... Human molecular genetics 23 (22), 6069-6080, 2014 | 79 | 2014 |
Quantifying the effects of 16p11. 2 copy number variants on brain structure: a multisite genetic-first study S Martin-Brevet, B Rodríguez-Herreros, JA Nielsen, C Moreau, ... Biological Psychiatry 84 (4), 253-264, 2018 | 75 | 2018 |
Autosomal recessive primary microcephaly due to ASPM mutations: An update P Létard, S Drunat, Y Vial, S Duerinckx, A Ernault, D Amram, S Arpin, ... Human mutation 39 (3), 319-332, 2018 | 71 | 2018 |
Anti-N-Methyl-d-Aspartate (NMDA) Receptor Encephalitis Mimicking a Primary Psychiatric Disorder in an Adolescent S Lebon, C Mayor-Dubois, I Popea, C Poloni, N Selvadoray, A Gumy, ... Journal of child neurology 27 (12), 1607-1610, 2012 | 41 | 2012 |
Intracranial hypotension in a girl with Marfan syndrome: case report and review of the literature E Cheuret, T Edouard, M Mejdoubi, P Acar, C Pienkowski, C Cances, ... Child's Nervous System 24, 509-513, 2008 | 38 | 2008 |
Perinatal arterial ischemic stroke related to carotid artery occlusion J Fluss, S Garcia-Tarodo, M Granier, F Villega, S Ferey, B Husson, ... European Journal of Paediatric Neurology 20 (4), 639-648, 2016 | 36 | 2016 |
Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study; 16p11. 2 European Consortium; Simons Variation in Individuals Project (VIP) Consortium (2016 … D D’Angelo, S Lebon, Q Chen, S Martin-Brevet, LG Snyder, L Hippolyte, ... JAMA Psychiatry 73 (1), 20-30, 0 | 31 | |
Early‐onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A N Lebrun, S Lebon, PY Jeannet, S Jacquemont, P Billuart, T Bienvenu American Journal of Medical Genetics Part A 167 (12), 3076-3081, 2015 | 30 | 2015 |
Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling? S El Chehadeh, R Touraine, F Prieur, W Reardon, T Bienvenu, ... Clinical genetics 91 (4), 576-588, 2017 | 26 | 2017 |
Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients S El Chehadeh, L Faivre, AL Mosca‐Boidron, V Malan, J Amiel, M Nizon, ... American Journal of Medical Genetics Part A 170 (1), 116-129, 2016 | 26 | 2016 |
When is a child with status epilepticus likely to have Dravet syndrome? F Le Gal, S Lebon, GP Ramelli, AN Datta, D Mercati, O Maier, ... Epilepsy research 108 (4), 740-747, 2014 | 24 | 2014 |
Pediatric Encephalopathy: Clinical, Biochemical and Cellular Insights into the Role of Gln52 of GNAO1 and GNAI1 for the Dominant Disease GP Solis, TV Kozhanova, A Koval, SS Zhilina, TI Mescheryakova, ... Cells 10 (10), 2749, 2021 | 23 | 2021 |
When should clinicians search for GLUT1 deficiency syndrome in childhood generalized epilepsies? S Lebon, P Suarez, S Alija, CM Korff, J Fluss, D Mercati, AN Datta, ... european journal of paediatric neurology 19 (2), 170-175, 2015 | 21 | 2015 |
Midazolam as a first‐line treatment for neonatal seizures: Retrospective study K Dao, E Giannoni, M Diezi, E Roulet‐Perez, S Lebon Pediatrics International 60 (5), 498-500, 2018 | 19 | 2018 |
LBSL: case series and DARS2 variant analysis in early severe forms with unexpected presentations MD Stellingwerff, S Figuccia, E Bellacchio, K Alvarez, C Castiglioni, ... Neurology: Genetics 7 (2), e559, 2021 | 18 | 2021 |
Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature F Bastos, M Quinodoz, MC Addor, B Royer-Bertrand, H Fodstad, C Rivolta, ... BMC neurology 20, 1-6, 2020 | 17 | 2020 |
De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures B Royer-Bertrand, M Jequier Gygax, K Cisarova, JA Rosenfeld, ... Molecular Autism 12, 1-11, 2021 | 14 | 2021 |