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Stephanie Baulac

14
Documents

Publications

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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
Brain Communications, 2023, 5 (3), pp.fcad174. ⟨10.1093/braincomms/fcad174⟩
Article dans une revue hal-04508856v1
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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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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
Annals of Neurology, 2021, ⟨10.1002/ana.26256⟩
Article dans une revue hal-03405171v1
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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
Frontiers in Neurology, 2021, 12, ⟨10.3389/fneur.2021.738272⟩
Article dans une revue hal-03424597v1
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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
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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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
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

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

Seyeon Kim , Sara Baldassari , Nam Suk Sim , Mathilde Chipaux , Georg Dorfmüller
Annals of Neurology, 2021, 89 (6), pp.1248-1252. ⟨10.1002/ana.26080⟩
Article dans une revue inserm-03405601v1
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Synaptic autoimmunity: new insights into LGI1 antibody-mediated neuronal dysfunction

Melanie Ramberger , Antonio Berretta , Jeanne Tan , Bo Sun , Sophia Michael
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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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
The Lancet Neurology, 2018, 17 (8), pp.699-708. ⟨10.1016/S1474-4422(18)30215-1⟩
Article dans une revue hal-02352036v1

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

Julian Schubert , Aleksandra Siekierska , Mélanie Langlois , Patrick May , Clément Huneau
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
Brain - A Journal of Neurology , 2014, 137 (11), pp.2984 - 2996. ⟨10.1093/brain/awu259⟩
Article dans une revue hal-01615613v1

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
Journal of Proteome Research, 2012, 11 (11), pp.5453-63. ⟨10.1021/pr3006974⟩
Article dans une revue hal-00877728v1