Stephanie Baulac

39
Documents

Publications

Publications

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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 Lecoquierre et al.
Nature Genetics, 2025, ⟨10.1038/s41588-025-02184-4⟩
Article dans une revue hal-05097950 v1
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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-05050516 v1
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Genetic Insights Into Hypothalamic Hamartoma: Unraveling Somatic Variants

Lina Sami , Mathilde Chipaux , Sarah Ferrand-Sorbets , Marion Doladilhe , Christine Bulteau et al.
Neurology Genetics, 2024, 10 (5), pp.e200180. ⟨10.1212/nxg.0000000000200180⟩
Article dans une revue hal-04769160 v1
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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-04540541 v1
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Targeting pathological cells with senolytic drugs reduces seizures in neurodevelopmental mTOR-related epilepsy

Théo Ribierre , Alexandre Bacq , Florian Donneger , Marion Doladilhe , Marina Maletic et al.
Nature Neuroscience, 2023, 27, pp.1125 - 1136. ⟨10.1038/s41593-024-01634-2⟩
Article dans une revue hal-04803547 v1
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Detection of brain somatic mutations in focal cortical dysplasia during epilepsy presurgical workup

Rayann Checri , Mathilde Chipaux , Sarah Ferrand-Sorbets , Emmanuel Raffo , Christine Bulteau et al.
Brain Communications, 2023, 5 (3), pp.fcad174. ⟨10.1093/braincomms/fcad174⟩
Article dans une revue hal-04508856 v1
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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-03474483 v1
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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 Kim et al.
Acta Neuropathologica Communications, 2021, 9 (1), pp.3. ⟨10.1186/s40478-020-01085-3⟩
Article dans une revue hal-03146038 v1
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Cardiac investigations in sudden unexpected death in DEPDC5 ‐related epilepsy

Alexandre Bacq , Delphine Roussel , Thomas Bonduelle , Sara Zagaglia , Marina Maletic et al.
Annals of Neurology, 2021, ⟨10.1002/ana.26256⟩
Article dans une revue hal-03405171 v1
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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-03277199 v1
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Involvement of ADGRV1 Gene in Familial Forms of Genetic Generalized Epilepsy

Maha Dahawi , Mohamed S Elmagzoub , Elhami A. Ahmed , Sara Baldassari , Guillaume Achaz et al.
Frontiers in Neurology, 2021, 12, ⟨10.3389/fneur.2021.738272⟩
Article dans une revue hal-03424597 v1

Detection of Brain Somatic Mutations in Cerebrospinal Fluid from Refractory Epilepsy Patients

Seyeon Kim , Sara Baldassari , Nam Suk Sim , Mathilde Chipaux , Georg Dorfmüller et al.
Annals of Neurology, 2021, 89 (6), pp.1248-1252. ⟨10.1002/ana.26080⟩
Article dans une revue inserm-03405601 v1
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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 Stephenson et al.
Annals of Clinical and Translational Neurology, 2021, 8 (2), pp.485-490. ⟨10.1002/acn3.51286⟩
Article dans une revue hal-03425474 v1
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Distinctive binding properties of human monoclonal LGI1 autoantibodies determine pathogenic mechanisms

Melanie Ramberger , Antonio Berretta , Jeanne Tan , Bo Sun , Sophia Michael et al.
Brain - A Journal of Neurology , 2020, 143 (6), pp.1731-1745. ⟨10.1093/brain/awaa104⟩
Article dans une revue hal-03121951 v1
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Acute knockdown of Depdc5 leads to synaptic defects in mTOR-related epileptogenesis

Antonio de Fusco , Maria Sabina Cerullo , Antonella Marte , Caterina Michetti , Alessandra Romei et al.
Neurobiology of Disease, In press, ⟨10.1016/j.nbd.2020.104822⟩
Article dans une revue hal-02498215 v1
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Dissecting the genetic basis of focal cortical dysplasia: a large cohort study

Sara Baldassari , Théo Ribierre , Elise Marsan , Homa Adle-Biassette , Sarah Ferrand-Sorbets et al.
Acta Neuropathologica, 2019, 1, ⟨10.1007/s00401-019-02061-5⟩
Article dans une revue hal-02282912 v1
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The landscape of epilepsy-related GATOR1 variants

Sara Baldassari , Fabienne Picard , Nienke E. Verbeek , Marjan van Kempen , Eva Brilstra et al.
Genetics in Medicine, 2019, 21 (2), pp.398-408. ⟨10.1038/s41436-018-0060-2⟩
Article dans une revue hal-02063270 v1
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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-02984719 v1
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Correction: The landscape of epilepsy-related GATOR1 variants

Sara Baldassari , Fabienne Picard , Nienke E. Verbeek , Marjan van Kempen , Eva Brilstra et al.
Genetics in Medicine, 2019, 21 (8), pp.1896. ⟨10.1038/s41436-018-0325-9⟩
Article dans une revue hal-02066352 v1
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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 Schubert et al.
The Lancet Neurology, 2018, 17 (8), pp.699-708. ⟨10.1016/S1474-4422(18)30215-1⟩
Article dans une revue hal-02352036 v1
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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 Soubannier et al.
eNeuro, 2018, 5 (4), pp.ENEURO.0185-18.2018. ⟨10.1523/ENEURO.0185-18.2018⟩
Article dans une revue hal-02066580 v1

Depdc5 knockdown causes mTOR-dependent motor hyperactivity in zebrafish

Hortense de Calbiac , Adriana Dabacan , Elise Marsan , Hervé Tostivint , Gabrielle Devienne et al.
Annals of Clinical and Translational Neurology, 2018, 5 (5), pp.510-523. ⟨10.1002/acn3.542⟩
Article dans une revue mnhn-02860982 v1

LGI1 tunes intrinsic excitability by regulating the density of axonal Kv1 channels

Michael Seagar , Michaël Russier , Olivier Caillard , Yves Maulet , Laure Fronzaroli-Molinieres et 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-01708767 v1
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Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy

Rikke Møller , Sarah Weckhuysen , Mathilde Chipaux , Elise Marsan , Valérie Taly et al.
Neurology Genetics, 2016, 2 (6), pp.e118. ⟨10.1212/NXG.0000000000000118⟩
Article dans une revue inserm-02299548 v1
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Depdc5 knockout rat: A novel model of mTORopathy

Elise Marsan , Saeko Ishida , Adrien Schramm , Sarah Weckhuysen , Giuseppe Muraca et al.
Neurobiology of Disease, 2016, 89, pp.180-189. ⟨10.1016/j.nbd.2016.02.010⟩
Article dans une revue hal-01275886 v1
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Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia

Sarah Weckhuysen , Elise Marsan , Virginie Lambrecq , Cécile Marchal , Mélanie Morin-Brureau et al.
Epilepsia, 2016, 57 (6), pp.994-1003 ⟨10.1111/epi.13391⟩
Article dans une revue hal-01323850 v1
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LGI1 acts presynaptically to regulate excitatory synaptic transmission during early postnatal development

Morgane Boillot , Chun-Yao Lee , Camille Allene , Eric Leguern , Stéphanie Baulac et al.
Scientific Reports, 2016, 6, pp.21769. ⟨10.1038/srep21769⟩
Article dans une revue hal-01278922 v1
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Novel GABRG2 mutations cause familial febrile seizures

Morgane Boillot , Mélanie Morin-Brureau , Fabienne Picard , Sarah Weckhuysen , Virginie Lambrecq et al.
Neurology Genetics, 2015, 1 (4), pp.e35. ⟨10.1212/NXG.0000000000000035⟩
Article dans une revue hal-01304648 v1
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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-01166902 v1
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Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations

Stéphanie Baulac , Saeko Ishida , Elise Marsan , Catherine Miquel , Arnaud Biraben et al.
Annals of Neurology, 2015, 77 (4), pp.675-683. ⟨10.1002/ana.24368⟩
Article dans une revue hal-01142443 v1

Glutamatergic neuron-targeted loss of LGI1 epilepsy gene results in seizures

Morgane Boillot , Clement Huneau , Elise Marsan , Katia Lehongre , Vincent Navarro et al.
Brain - A Journal of Neurology , 2014, 137 (11), pp.2984 - 2996. ⟨10.1093/brain/awu259⟩
Article dans une revue hal-01615613 v1
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De novo mutations in HCN1 cause early infantile epileptic encephalopathy

Caroline Nava , Carine Dalle , Agnès Rastetter , Pasquale Striano , Carolien de Kovel et al.
Nature Genetics, 2014, 46 (6), pp.640-645. ⟨10.1038/ng.2952⟩
Article dans une revue hal-01710614 v1

Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes

Julian Schubert , Aleksandra Siekierska , Mélanie Langlois , Patrick May , Clément Huneau et al.
Nature Genetics, 2014, 46 (12), pp.1327 - 1332. ⟨10.1038/ng.3130⟩
Article dans une revue hal-01615594 v1

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 Lavigne et al.
Journal of Proteome Research, 2012, 11 (11), pp.5453-63. ⟨10.1021/pr3006974⟩
Article dans une revue hal-00877728 v1
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Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome

Christel Depienne , Oriane Trouillard , Isabelle Gourfinkel-An , Cécile Saint-Martin , Delphine Bouteiller et al.
Journal of Medical Genetics, 2010, 47 (6), pp.404. ⟨10.1136/jmg.2009.074328⟩
Article dans une revue istex hal-00557383 v1
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A novel locus for generalized epilepsy with febrile seizures plus in French families.

Stéphanie Baulac , Isabelle Gourfinkel-An , Philippe Couarch , Christel Depienne , Anna Kaminska et al.
Archives of Neurology -Chigago-, 2008, pp.65(7):943-51
Article dans une revue inserm-00306473 v1
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Two novel epilepsy-linked mutations leading to a loss of function of LGI1.

Elodie Chabrol , Cyprian Popescu , Isabelle Gourfinkel-An , Oriane Trouillard , Christel Depienne et al.
Archives of Neurology -Chigago-, 2007, 64 (2), pp.217-22. ⟨10.1001/archneur.64.2.217⟩
Article dans une revue inserm-00306475 v1
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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 Couarch et al.
Epilepsy Research, 2007, 76 (1), pp.41-8. ⟨10.1016/j.eplepsyres.2007.06.014⟩
Article dans une revue inserm-00306474 v1