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Detection of brain somatic mutations in focal cortical dysplasia during epilepsy presurgical workup
Rayann Checri
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Mathilde Chipaux
,
Sarah Ferrand-Sorbets
,
Emmanuel Raffo
,
Christine Bulteau
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
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
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
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
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
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Sarah E M Stephenson
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
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
Article dans une revue
hal-03474483v1
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Detection of Brain Somatic Mutations in Cerebrospinal Fluid from Refractory Epilepsy Patients
Seyeon Kim
,
Sara Baldassari
,
Nam Suk Sim
,
Mathilde Chipaux
,
Georg Dorfmüller
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
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
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Merle Harrer
,
Dheeraj Bobbili
,
Julian Schubert
Article dans une revue
hal-02352036v1
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Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes
Julian Schubert
,
Aleksandra Siekierska
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Mélanie Langlois
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Patrick May
,
Clément Huneau
Article dans une revue
hal-01615594v1
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Glutamatergic neuron-targeted loss of LGI1 epilepsy gene results in seizures
Morgane Boillot
,
Clement Huneau
,
Elise Marsan
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Katia Lehongre
,
Vincent Navarro
Article dans une revue
hal-01615613v1
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New analysis workflow for MALDI imaging mass spectrometry: application to the discovery and identification of potential markers of childhood absence epilepsy.
Mélanie Lagarrigue
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Theodore Alexandrov
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Gabriel Dieuset
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Aline Perrin
,
Régis Lavigne
Article dans une revue
hal-00877728v1
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