Stephanie Baulac

Publications

Article dans une revue (40)

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies Elsa Leitão,Amandine Santini,Benjamin Cogne,Miriam Essid,Maria Athanasiadouet al. Nature Genetics, 2026, ⟨10.1038/s41588-026-02547-5⟩ Article dans une revue hal-05379108v1
Detection of brain somatic mutations from stereo-EEG electrodes in focal epilepsy: Current advances and future perspectives R. Checri,S. Baldassari,S. Baulac Revue Neurologique, 2025, 181 (5), pp.425-431. ⟨10.1016/j.neurol.2025.03.003⟩ Article dans une revue hal-05379461v1
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption Caroline Nava,Benjamin Cogne,Amandine Santini,Elsa Leitão,François Lecoquierreet al. Nature Genetics, 2025, ⟨10.1038/s41588-025-02184-4⟩ Article dans une revue hal-05097950v1
Du mosaïcisme cérébral aux crises d’épilepsie Théo Ribierre,Stéphanie Baulac Médecine/Sciences, 2025, 41 (4), pp.316-318. ⟨10.1051/medsci/2025053⟩ Article dans une revue hal-05050516v1
Genetic Insights Into Hypothalamic Hamartoma: Unraveling Somatic Variants Lina Sami,Mathilde Chipaux,Sarah Ferrand-Sorbets,Marion Doladilhe,Christine Bulteauet al. Neurology Genetics, 2024, 10 (5), pp.e200180. ⟨10.1212/nxg.0000000000200180⟩ Article dans une revue hal-04769160v1
mTOR pathway: Insights into an established pathway for brain mosaicism in epilepsy Anna Gerasimenko,Sara Baldassari,Stéphanie Baulac Neurobiology of Disease, 2023, 182, pp.106144. ⟨10.1016/j.nbd.2023.106144⟩ Article dans une revue hal-04540541v1
Targeting pathological cells with senolytic drugs reduces seizures in neurodevelopmental mTOR-related epilepsy Théo Ribierre,Alexandre Bacq,Florian Donneger,Marion Doladilhe,Marina Maleticet al. Nature Neuroscience, 2023, 27, pp.1125 - 1136. ⟨10.1038/s41593-024-01634-2⟩ Article dans une revue hal-04803547v1
Detection of brain somatic mutations in focal cortical dysplasia during epilepsy presurgical workup Rayann Checri,Mathilde Chipaux,Sarah Ferrand-Sorbets,Emmanuel Raffo,Christine Bulteauet al. Brain Communications, 2023, 5 (3), pp.fcad174. ⟨10.1093/braincomms/fcad174⟩ Article dans une revue hal-04508856v1
Frequent SLC35A2 brain mosaicism in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) Thomas Bonduelle,Till Hartlieb,Sara Baldassari,Nam Suk Sim,Se Hoon Kimet al. Acta Neuropathologica Communications, 2021, 9 (1), pp.3. ⟨10.1186/s40478-020-01085-3⟩ Article dans une revue hal-03146038v1
Detection of brain somatic mutations in CSF from refractory epilepsy patients Running head: Detect somatic variants in epilepsy patients CSF Seyeon Kim,Sara Baldassari,Stéphanie Baulac,Jeong Ho Lee Annals of Neurology, 2021, 90 (4), pp.694-695. ⟨10.1002/ana.26188⟩ Article dans une revue hal-03474483v1
Molecular diagnostics in drug-resistant focal epilepsy define new disease entities Katja Kobow,Stéphanie Baulac,Jeong Ho Lee,Andreas von Deimling Brain Pathology, 2021, 31 (4), ⟨10.1111/bpa.12963⟩ Article dans une revue hal-03277199v1
Cardiac investigations in sudden unexpected death in DEPDC5 ‐related epilepsy Alexandre Bacq,Delphine Roussel,Thomas Bonduelle,Sara Zagaglia,Marina Maleticet al. Annals of Neurology, 2021, ⟨10.1002/ana.26256⟩ Article dans une revue hal-03405171v1
Involvement of ADGRV1 Gene in Familial Forms of Genetic Generalized Epilepsy Maha Dahawi,Mohamed S Elmagzoub,Elhami A. Ahmed,Sara Baldassari,Guillaume Achazet al. Frontiers in Neurology, 2021, 12, ⟨10.3389/fneur.2021.738272⟩ Article dans une revue hal-03424597v1
Detection of Brain Somatic Mutations in Cerebrospinal Fluid from Refractory Epilepsy Patients Seyeon Kim,Sara Baldassari,Nam Suk Sim,Mathilde Chipaux,Georg Dorfmülleret al. Annals of Neurology, 2021, 89 (6), pp.1248-1252. ⟨10.1002/ana.26080⟩ Article dans une revue inserm-03405601v1
Gradient of brain mosaic RHEB variants causes a continuum of cortical dysplasia Wei Shern Lee,Sara Baldassari,Mathilde Chipaux,Homa Adle‐biassette,Sarah E M Stephensonet al. Annals of Clinical and Translational Neurology, 2021, 8 (2), pp.485-490. ⟨10.1002/acn3.51286⟩ Article dans une revue hal-03425474v1
Distinctive binding properties of human monoclonal LGI1 autoantibodies determine pathogenic mechanisms Melanie Ramberger,Antonio Berretta,Jeanne Tan,Bo Sun,Sophia Michaelet al. Brain - A Journal of Neurology , 2020, 143 (6), pp.1731-1745. ⟨10.1093/brain/awaa104⟩ Article dans une revue hal-03121951v1
Acute knockdown of Depdc5 leads to synaptic defects in mTOR-related epileptogenesis Antonio de Fusco,Maria Sabina Cerullo,Antonella Marte,Caterina Michetti,Alessandra Romeiet al. Neurobiology of Disease, In press, ⟨10.1016/j.nbd.2020.104822⟩ Article dans une revue hal-02498215v1
Dissecting the genetic basis of focal cortical dysplasia: a large cohort study Sara Baldassari,Théo Ribierre,Elise Marsan,Homa Adle-Biassette,Sarah Ferrand-Sorbetset al. Acta Neuropathologica, 2019, 1, ⟨10.1007/s00401-019-02061-5⟩ Article dans une revue hal-02282912v1
Le mosaïcisme somatique en cause dans les épilepsies neurodéveloppementales Théo Ribierre,Stéphanie Baulac Médecine/Sciences, 2019, 35 (4), pp.289-291. ⟨10.1051/medsci/2019058⟩ Article dans une revue hal-02984719v1
The landscape of epilepsy-related GATOR1 variants Sara Baldassari,Fabienne Picard,Nienke E. Verbeek,Marjan van Kempen,Eva Brilstraet al. Genetics in Medicine, 2019, 21 (2), pp.398-408. ⟨10.1038/s41436-018-0060-2⟩ Article dans une revue hal-02063270v1
Correction: The landscape of epilepsy-related GATOR1 variants Sara Baldassari,Fabienne Picard,Nienke E. Verbeek,Marjan van Kempen,Eva Brilstraet al. Genetics in Medicine, 2019, 21 (8), pp.1896. ⟨10.1038/s41436-018-0325-9⟩ Article dans une revue hal-02066352v1
Depdc5 knockdown causes mTOR-dependent motor hyperactivity in zebrafish Hortense de Calbiac,Adriana Dabacan,Elise Marsan,Hervé Tostivint,Gabrielle Devienneet al. Annals of Clinical and Translational Neurology, 2018, 5 (5), pp.510-523. ⟨10.1002/acn3.542⟩ Article dans une revue mnhn-02860982v1
The Nogo Receptor Ligand LGI1 Regulates Synapse Number and Synaptic Activity in Hippocampal and Cortical Neurons Rhalena A Thomas,Julien Gibon,Carol X Q Chen,Sabrina Chierzi,Vincent G Soubannieret al. eNeuro, 2018, 5 (4), pp.ENEURO.0185-18.2018. ⟨10.1523/ENEURO.0185-18.2018⟩ Article dans une revue hal-02066580v1
Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study Patrick May,Simon Girard,Merle Harrer,Dheeraj Bobbili,Julian Schubertet al. The Lancet Neurology, 2018, 17 (8), pp.699-708. ⟨10.1016/S1474-4422(18)30215-1⟩ Article dans une revue hal-02352036v1
LGI1 tunes intrinsic excitability by regulating the density of axonal Kv1 channels Michael Seagar,Michaël Russier,Olivier Caillard,Yves Maulet,Laure Fronzaroli-Moliniereset al. Proceedings of the National Academy of Sciences of the United States of America, 2017, 114 (29), pp.7719 - 7724. ⟨10.1073/pnas.1618656114⟩ Article dans une revue inserm-01708767v1
Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy Rikke Møller,Sarah Weckhuysen,Mathilde Chipaux,Elise Marsan,Valérie Talyet al. Neurology Genetics, 2016, 2 (6), pp.e118. ⟨10.1212/NXG.0000000000000118⟩ Article dans une revue inserm-02299548v1
Depdc5 knockout rat: A novel model of mTORopathy Elise Marsan,Saeko Ishida,Adrien Schramm,Sarah Weckhuysen,Giuseppe Muracaet al. Neurobiology of Disease, 2016, 89, pp.180-189. ⟨10.1016/j.nbd.2016.02.010⟩ Article dans une revue hal-01275886v1
Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia Sarah Weckhuysen,Elise Marsan,Virginie Lambrecq,Cécile Marchal,Mélanie Morin-Brureauet al. Epilepsia, 2016, 57 (6), pp.994-1003 ⟨10.1111/epi.13391⟩ Article dans une revue hal-01323850v1
LGI1 acts presynaptically to regulate excitatory synaptic transmission during early postnatal development Morgane Boillot,Chun-Yao Lee,Camille Allene,Eric Leguern,Stéphanie Baulacet al. Scientific Reports, 2016, 6, pp.21769. ⟨10.1038/srep21769⟩ Article dans une revue hal-01278922v1
Novel GABRG2 mutations cause familial febrile seizures Morgane Boillot,Mélanie Morin-Brureau,Fabienne Picard,Sarah Weckhuysen,Virginie Lambrecqet al. Neurology Genetics, 2015, 1 (4), pp.e35. ⟨10.1212/NXG.0000000000000035⟩ Article dans une revue hal-01304648v1
Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations Stéphanie Baulac,Saeko Ishida,Elise Marsan,Catherine Miquel,Arnaud Birabenet al. Annals of Neurology, 2015, 77 (4), pp.675-683. ⟨10.1002/ana.24368⟩ Article dans une revue hal-01142443v1
Genetic models of focal epilepsies Morgane Boillot,Stéphanie Baulac Journal of Neuroscience Methods, 2015, 260, pp.132-143. ⟨10.1016/j.jneumeth.2015.06.003⟩ Article dans une revue hal-01166902v1
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes Julian Schubert,Aleksandra Siekierska,Mélanie Langlois,Patrick May,Clément Huneauet al. Nature Genetics, 2014, 46 (12), pp.1327 - 1332. ⟨10.1038/ng.3130⟩ Article dans une revue hal-01615594v1
Glutamatergic neuron-targeted loss of LGI1 epilepsy gene results in seizures Morgane Boillot,Clement Huneau,Elise Marsan,Katia Lehongre,Vincent Navarroet al. Brain - A Journal of Neurology , 2014, 137 (11), pp.2984 - 2996. ⟨10.1093/brain/awu259⟩ Article dans une revue hal-01615613v1
De novo mutations in HCN1 cause early infantile epileptic encephalopathy Caroline Nava,Carine Dalle,Agnès Rastetter,Pasquale Striano,Carolien de Kovelet al. Nature Genetics, 2014, 46 (6), pp.640-645. ⟨10.1038/ng.2952⟩ Article dans une revue hal-01710614v1
New analysis workflow for MALDI imaging mass spectrometry: application to the discovery and identification of potential markers of childhood absence epilepsy. Mélanie Lagarrigue,Theodore Alexandrov,Gabriel Dieuset,Aline Perrin,Régis Lavigneet al. Journal of Proteome Research, 2012, 11 (11), pp.5453-63. ⟨10.1021/pr3006974⟩ Article dans une revue hal-00877728v1
Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome Christel Depienne,Oriane Trouillard,Isabelle Gourfinkel-An,Cécile Saint-Martin,Delphine Bouteilleret al. Journal of Medical Genetics, 2010, 47 (6), pp.404. ⟨10.1136/jmg.2009.074328⟩ Article dans une revue istex hal-00557383v1
A novel locus for generalized epilepsy with febrile seizures plus in French families. Stéphanie Baulac,Isabelle Gourfinkel-An,Philippe Couarch,Christel Depienne,Anna Kaminskaet al. Archives of Neurology -Chigago-, 2008, pp.65(7):943-51 Article dans une revue inserm-00306473v1
Two novel epilepsy-linked mutations leading to a loss of function of LGI1. Elodie Chabrol,Cyprian Popescu,Isabelle Gourfinkel-An,Oriane Trouillard,Christel Depienneet al. Archives of Neurology -Chigago-, 2007, 64 (2), pp.217-22. ⟨10.1001/archneur.64.2.217⟩ Article dans une revue inserm-00306475v1
Absence of mutations in the LGI1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy. Elodie Chabrol,Isabelle Gourfinkel-An,Ingrid E. Scheffer,Fabienne Picard,Philippe Couarchet al. Epilepsy Research, 2007, 76 (1), pp.41-8. ⟨10.1016/j.eplepsyres.2007.06.014⟩ Article dans une revue inserm-00306474v1