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Dr Sebastien Lebon, MD
Dr Sebastien Lebon, MD
Neuropediatrician, Unit of Pediatric Neurology, DFME, CHUV, Lausanne, Switzerland
在 chuv.ch 的电子邮件经过验证
标题
引用次数
引用次数
年份
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
3152012
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
2382016
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
1002022
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
792014
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
752018
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
712018
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
412012
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
382008
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
362016
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
302015
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
262017
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
262016
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
242014
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
232021
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
212015
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
192018
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
182021
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
172020
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
142021
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