Sebastien Lebon

Publications | Phd and Masters theses

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43 publications

2024 | 2023 | 2022 | 2021 | 2020 | 2018 | 2017 | 2016 | 2015 | 2014 | 2012 | 2011 | 2008 |
2024
Prenatal Diagnosis of Warsaw Breakage Syndrome: Fetal Compound Heterozygous Variants in the DDX11 Gene Associated With Growth Restriction, Cerebral, and Extra-Cerebral Malformations.
Kratochwila C., Pomar L., Lebon S., Gengler C., Pavlidou D.C., Good J.M., Kumps C., Sichitiu J., 2024/11. Prenatal diagnosis, 44 (12) pp. 1526-1529. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_9F3C8D6CE705]
Inflammatory Type Focal Cerebral Arteriopathy of the Posterior Circulation in Children: A Comparative Cohort Study.
Slavova N., Muenger R., Sanchez-Albisua I., Regényi M., Oesch G., Fluss J., Hackenberg A., Lebon S., Maier O., Datta A.N. et al., 2024/04. Stroke, 55 (4) pp. 1006-1014. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_6D2D650A6103]
Seizures in Children with Influenza during the 2022-2023 Winter Season, a Case Series.
Peranzoni F., Martins C., Lebon S., Crisinel P.A., Perez M.H., 2024/01/19. Clinics and practice, 14 (1) pp. 173-178. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_85B94E61016A]
 
Tuberous sclerosis: a survey in the canton of Vaud, Switzerland.
Hagon-Nicod O., Fellmann F., Novy J., Lebon S., Wider C., Lazor R., Bonny O., 2024. Frontiers in medicine, 11 p. 1513619. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_30CA2C132904]
2023
 
How to differentiate PHACES syndrome from Blake's pouch cyst in first half of pregnancy.
Pomar L., Lebon S., Vial Y., 2023/12. Ultrasound in obstetrics & gynecology, 62 (6) pp. 906-908. Peer-reviewed.
[DOI][Pmid][serval:BIB_D3D4B1DE3AF6]
Developmental disorder and spastic paraparesis in two sisters with a TCF7L2 truncating variant inherited from a mosaic mother.
Royer-Bertrand B., Lebon S., Craig A., Maeder J., Mittaz-Crettol L., Fodstad H., Superti-Furga A., Good J.M., 2023/06. American journal of medical genetics. Part A, 191 (6) pp. 1658-1663. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_1128EDF4C0B9]
Prenatal Diagnosis of Gómez-López-Hernández Syndrome.
Pomar L., Rieder W., Dubruc E., Giuliano F., Atallah I., Lebon S., Vial Y., 2023. Fetal diagnosis and therapy, 50 (2) pp. 92-97. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_D371237FF86F]
2022
Treatment-emergent adverse events and antiseizure medication actual drug load.
Prétat T., Aícua-Rapún I., André P., Lebon S., Rossetti A.O., Decosterd L.A., Buclin T., Novy J., 2022/12. Epilepsy & behavior, 137 (Pt A) p. 108980. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_7D05EB7BE2F8]
 
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
Johannesen K.M., Liu Y., Koko M., Gjerulfsen C.E., Sonnenberg L., Schubert J., Fenger C.D., Eltokhi A., Rannap M., Koch N.A. et al., 2022/09/14. Brain, 145 (9) pp. 2991-3009. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_08E33EDD42EE]
Prenatal diagnosis of Aicardi syndrome based on a suggestive imaging pattern: A multicenter case-series.
Pomar L., Ochoa J., Cabet S., Huisman TAGM, Paladini D., Klaritsch P., Galmiche A., Prayer F., Gacio S., Haratz K. et al., 2022/04. Prenatal diagnosis, 42 (4) pp. 484-494. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_07923668998E]
 
Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration.
Dentici M.L., Alesi V., Quinodoz M., Robens B., Guerin A., Lebon S., Poduri A., Travaglini L., Graziola F., Afenjar A. et al., 2022/03. Journal of medical genetics, 59 (3) pp. 262-269. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_074A446B57C9]
2021
 
Structural brain abnormalities in epilepsy with myoclonic atonic seizures.
Denervaud S., Korff C., Fluss J., Kalser J., Roulet-Perez E., Hagmann P., Lebon S., 2021/11. Epilepsy research, 177 p. 106771. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_C3E452F76420]
De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures.
Royer-Bertrand B., Jequier Gygax M., Cisarova K., Rosenfeld J.A., Bassetti J.A., Moldovan O., O'Heir E., Burrage L.C., Allen J., Emrick L.T. et al., 2021/10/26. Molecular autism, 12 (1) p. 69. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_665170C14526]
Pediatric Encephalopathy: Clinical, Biochemical and Cellular Insights into the Role of Gln52 of GNAO1 and GNAI1 for the Dominant Disease.
Solis G.P., Kozhanova T.V., Koval A., Zhilina S.S., Mescheryakova T.I., Abramov A.A., Ishmuratov E.V., Bolshakova E.S., Osipova K.V., Ayvazyan S.O. et al., 2021/10/14. Cells, 10 (10) p. 2749. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_1214BCE2F055]
Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous KDM5B Variants.
Lebon S., Quinodoz M., Peter V.G., Gengler C., Blanchard G., Cina V., Campos-Xavier B., Rivolta C., Superti-Furga A., 2021/09/10. Genes, 12 (9) p. 1397. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_14ADEBC9C07B]
Exposure to alirocumab during the first trimester of pregnancy: A case report.
Vuignier Y., Beaud F., Kosinski C., Panchaud A., Lebon S., Baud D., Kissling S., Collet T.H., 2021/09/01. Birth defects research, 113 (15) pp. 1156-1160. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_747A6FD87345]
LBSL: Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations.
Stellingwerff M.D., Figuccia S., Bellacchio E., Alvarez K., Castiglioni C., Topaloglu P., Stutterd C.A., Erasmus C.E., Sanchez-Valle A., Lebon S. et al., 2021/04. Neurology. Genetics, 7 (2) pp. e559. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_3232F68A885B]
 
Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome.
Masnada S., Pichiecchio A., Formica M., Arrigoni F., Borrelli P., Accorsi P., Bonanni P., Borgatti R., Bernardina B.D., Danieli A. et al., 2021/03/02. Neurology, 96 (9) pp. e1319-e1333. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_FF88E9E2460E]
2020
Sultiame pharmacokinetic profile in plasma and erythrocytes after single oral doses: A pilot study in healthy volunteers.
Dao K., Thoueille P., Decosterd L.A., Mercier T., Guidi M., Bardinet C., Lebon S., Choong E., Castang A., Guittet C. et al., 2020/02. Pharmacology research & perspectives, 8 (1) pp. e00558. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_0D0F21F7F1EC]
Clinical Reasoning: Rapidly progressive gait disorder and cranial nerves involvement in a 9-year-old boy.
Lipp A., Adam C., Brouland J.P., Messerer M., Armengaud J.B., Asner S., Poloni C., Beck-Popovic M., Roulet-Perez E., Lebon S., 2020/01/21. Neurology, 94 (3) pp. e330-e334. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_EBF4FF7DD5DF]
Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature.
Bastos F., Quinodoz M., Addor M.C., Royer-Bertrand B., Fodstad H., Rivolta C., Poloni C., Superti-Furga A., Roulet-Perez E., Lebon S., 2020/01/13. BMC neurology, 20 (1) p. 17. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_8835342E4A2F]
2018
 
Midazolam as a first-line treatment for neonatal seizures: Retrospective study.
Dao K., Giannoni E., Diezi M., Roulet-Perez E., Lebon S., 2018/05. Pediatrics international, 60 (5) pp. 498-500. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_ADB0C7B1BCAA]
 
Autosomal recessive primary microcephaly due to ASPM mutations: An update.
Létard P., Drunat S., Vial Y., Duerinckx S., Ernault A., Amram D., Arpin S., Bertoli M., Busa T., Ceulemans B. et al., 2018/03. Human mutation, 39 (3) pp. 319-332. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_1B2B0811BEA9]
 
Periinsular anterior quadrantotomy: technical note.
Cossu G., Lebon S., Seeck M., Pralong E., Messerer M., Roulet-Perez E., Daniel R.T., 2018/02. Journal of neurosurgery. Pediatrics, 21 (2) pp. 124-132. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_6B81BF7F05D7]
Pédiatrie. Nouvelle classification des crises épileptiques et des épilepsies [Pediatrics - New classification of seizures and epilepsies]
Lebon S., Roulet-Perez É., 2018/01/10. Revue medicale suisse, 14 (588-589) pp. 74-75. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_388031D054F3]
2017
 
Prenatal Brainstem Disruptions: Small Lesions–Big Problems
Bauder Florian, Giarrana Miriam, Hackenberg Anette, Lebon Sébastien, Roulet-Perez Eliane, Schmid Regula, Schmitt-Mechelke Thomas, Poretti Andrea, Boltshauser Eugen, 2017/10. Neuropediatrics, 48 (05) pp. 350-355.
[DOI][WoS][Pmid][serval:BIB_5EB68E6B73CB]
 
Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?
El Chehadeh S., Touraine R., Prieur F., Reardon W., Bienvenu T., Chantot-Bastaraud S., Doco-Fenzy M., Landais E., Philippe C., Marle N. et al., 2017/04. Clinical genetics, 91 (4) pp. 576-588. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_7C85AAC15298]
2016
Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.
D'Angelo D., Lebon S., Chen Q., Martin-Brevet S., Snyder L.G., Hippolyte L., Hanson E., Maillard A.M., Faucett W.A., Macé A. et al., 2016. Jama Psychiatry, 73 (1) pp. 20-30. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_FA7E8A43283E]
 
Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.
El Chehadeh S., Faivre L., Mosca-Boidron A.L., Malan V., Amiel J., Nizon M., Touraine R., Prieur F., Pasquier L., Callier P. et al., 2016. American Journal of Medical Genetics. Part A, 170A (1) pp. 116-129. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_08C9E1B19BCA]
 
Perinatal arterial ischemic stroke related to carotid artery occlusion.
Fluss J., Garcia-Tarodo S., Granier M., Villega F., Ferey S., Husson B., Kossorotoff M., Muehlethaler V., Lebon S., Chabrier S., 2016. European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 20 (4) pp. 639-648. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_C47D60FAA4EB]
2015
 
Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A.
Lebrun N., Lebon S., Jeannet P.Y., Jacquemont S., Billuart P., Bienvenu T., 2015. American Journal of Medical Genetics. Part A, 167A (12) pp. 3076-3081. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_148619F76195]
 
When should clinicians search for GLUT1 deficiency syndrome in childhood generalized epilepsies?
Lebon S., Suarez P., Alija S., Korff C.M., Fluss J., Mercati D., Datta A.N., Poloni C., Marcoz J.P., Campos-Xavier A.B. et al., 2015. European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 19 (2) pp. 170-175. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_4C3C4D37E9CB]
2014
16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.
Reinthaler E.M., Lal D., Lebon S., Hildebrand M.S., Dahl H.H., Regan B.M., Feucht M., Steinböck H., Neophytou B., Ronen G.M. et al., 2014. Human Molecular Genetics, 23 (22) pp. 6069-6080. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_30D0F629E19F]
 
Pédiatrie 2. Génétique des épilepsies de l'enfant: Pour qui ? Comment? Pourquoi [Genetics of childhood epilepsies: for who? how? why?].
Lebon S., Campos-Xavier B., Bonafé L., Roulet-Perez E., 2014. Revue Médicale Suisse, 10 (412-413) pp. 110-111.
[Pmid][serval:BIB_8A85C5C0BF87]
 
When is a child with status epilepticus likely to have Dravet syndrome?
Le Gal F., Lebon S., Ramelli G.P., Datta A.N., Mercati D., Maier O., Combescure C., Rodriguez M.I., Seeck M., Roulet E. et al., 2014. Epilepsy Research, 108 (4) pp. 740-747. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_F6BB75D85454]
2012
 
Avancées thérapeutiques dans les epilepsies réfractaires de l'enfant [Therapeutic advances in refractory epilepsies in children]
Korff C.M., Lebon S., Roulet-Perez E., 2012/02/22. Revue medicale suisse, 8 (329) pp. 413-414,416-417. Peer-reviewed.
[Pmid][serval:BIB_CC677CA2E8F2]
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.
Zufferey F., Sherr E.H., Beckmann N.D., Hanson E., Maillard A.M., Hippolyte L., Macé A., Ferrari C., Kutalik Z., Andrieux J. et al., 2012. Journal of Medical Genetics, 49 (10) pp. 660-668. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_26004E3F396F]
 
Anti-N-Methyl-D-Aspartate (NMDA) Receptor Encephalitis Mimicking a Primary Psychiatric Disorder in an Adolescent.
Lebon S., Mayor-Dubois C., Popea I., Poloni C., Selvadoray N., Gumy A., Roulet-Perez E., 2012. Journal of Child Neurology, 27 (12) pp. 1607-1610. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_063CB4EB47A9]
 
Brachialgies chez un adolescent [Upper limb pain in an adolescent].
Balomenou S., Roulet-Perez E., Vaudaux B., Lebon S., 2012. Archives de Pédiatrie, 19 (10) pp. 1093-1094.
[DOI][WoS][Pmid][serval:BIB_4DEBEF84DC61]
 
Total macular atrophy in subacute sclerosing panencephalitis [Totale Makulaatrophie bei subakuter sklerosierender Panenzephalitis]
Bolivar P., Lebon S., Borruat F.X., 2012. Klinische Monatsblätter Für Augenheilkunde, 229 (4) pp. 428-430. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_145743FF71B2]
 
Une forme particulière de neuroborréliose : le syndrome de Bannwarth [A pediatric case of Bannwarth syndrome].
Balomenou S., Roulet-Perez E., Vaudaux B., Lebon S., 2012. Archives de Pédiatrie, 19 (10) pp. 1118-1120.
[DOI][WoS][Pmid][serval:BIB_FE6F12E8196A]
2011
 
An initial MRI picture of limbic encephalitis in subacute sclerosing panencephalitis
Lebon Sébastien, Maeder Philippe, Maeder-Ingvar Malin, Poloni Claudia, Mayor-Dubois Claire, Roulet-Perez Eliane, Jeannet Pierre-Yves, 2011/11. European Journal of Paediatric Neurology, 15 (6) pp. 544-546.
[DOI][WoS][Pmid][serval:BIB_A0C7DA42C4AD]
2008
 
Intracranial hypotension in a girl with Marfan syndrome: case report and review of the literature.
Cheuret E., Edouard T., Mejdoubi M., Acar P., Pienkowski C., Cances C., Lebon S., Tauber M., Chaix Y., 2008/04. Child's nervous system, 24 (4) pp. 509-513. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_622122780B72]
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