Stephanie Baulac

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Publications

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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
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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-05097950v1
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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-05050516v1
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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-04769160v1
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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-04540541v1
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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-04803547v1
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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-04508856v1
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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-03146038v1
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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-03474483v1
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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-03424597v1
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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-03277199v1
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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-03405171v1

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-03405601v1
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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-03425474v1
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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-03121951v1
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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-02498215v1
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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-02282912v1
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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-02063270v1
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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-02984719v1
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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-02066352v1
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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-02066580v1
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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-02352036v1
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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-02860982v1

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-01708767v1
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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-02299548v1
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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-01275886v1
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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-01323850v1
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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-01278922v1
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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-01304648v1
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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-01142443v1
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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-01166902v1

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-01615594v1

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-01615613v1
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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-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 Lavigne et al.

Journal of Proteome Research, 2012, 11 (11), pp.5453-63. ⟨10.1021/pr3006974⟩

Article dans une revue hal-00877728v1
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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-00557383v1
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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-00306473v1
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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-00306475v1
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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-00306474v1