Stéphanie Baulac
Last author of the 2019 Acta Neuropathologica cohort study showing that focal cortical dysplasia type 2 is a mosaic mTORopathy.
Paris Brain Institute (ICM) · Sorbonne Université · Inserm · CNRS
Portrait: Paris Brain Institute
Stéphanie Baulac is last and corresponding author of BAL2019, a study of 80 children operated for drug-resistant epilepsy. Deep sequencing of brain tissue and matched blood found brain-restricted gain-of-function variants in mTOR pathway activators (MTOR, AKT3, PIK3CA, RHEB) only in focal cortical dysplasia type 2 and hemimegalencephaly, and the team concluded that all FCD2 cases are mosaic mTORopathies.
She is also a co-author of LEE2021, which traced a gradient of somatic RHEB variants across three patients. In PubMed her affiliation is the Paris Brain Institute (ICM) at Sorbonne Université, Inserm and CNRS.
Milestones in the Atlas
A selection, not a full bibliography: only papers that meet the Atlas inclusion criteria.
| Year | Evidence | Study |
|---|---|---|
| 2019 | H | Dissecting the genetic basis of focal cortical dysplasia: a large cohort study. BAL2019 Last author. Brain-restricted mTOR pathway variants explain most FCD2 and hemimegalencephaly cases in the cohort. |
| 2021 | H | Gradient of brain mosaic RHEB variants causes a continuum of cortical dysplasia. LEE2021 Co-author. Somatic RHEB variant load tracks the size of the cortical malformation. |
Co-authors in the Atlas 5
People with a profile here who share at least one study with Stéphanie Baulac.
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- Homa Adle-Biassette 2 shared studies Neuropathology co-author on two studies of mTOR pathway variants in cortical dysplasia.
- Mathilde Chipaux 2 shared studies Paediatric neurosurgery co-author on two studies of mTOR pathway variants in cortical dysplasia.
- Sara Baldassari 2 shared studies First author of the 2019 Acta Neuropathologica cohort study on the genetic basis of focal cortical dysplasia.
- Richard J Leventer Last author of the 2021 report on brain mosaic RHEB variants in cortical dysplasia.
- Wei Shern Lee First author of the 2021 report that brain mosaic RHEB variants cause a continuum of cortical dysplasia.
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