Sara Baldassari
First author of the 2019 Acta Neuropathologica cohort study on the genetic basis of focal cortical dysplasia.
Paris Brain Institute (ICM) · Sorbonne Université
Portrait: Paris Brain Institute
Sara Baldassari is first author of BAL2019, which sequenced brain and blood from 80 children with drug-resistant epilepsy and found brain-restricted variants in mTOR pathway genes in focal cortical dysplasia type 2 and hemimegalencephaly. Single-cell microdissection showed that the dysmorphic neurons carry the variants.
She is also second author of LEE2021, a report on somatic RHEB variants in three patients. In PubMed her affiliation is the Paris Brain Institute (ICM) at Sorbonne Université.
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 First author. Panel sequencing links mosaic mTOR pathway variants to FCD2 and hemimegalencephaly. |
| 2021 | H | Gradient of brain mosaic RHEB variants causes a continuum of cortical dysplasia. LEE2021 Second author. RHEB variants in dysmorphic neurons and balloon cells. |
Co-authors in the Atlas 5
People with a profile here who share at least one study with Sara Baldassari.
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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.
- Stéphanie Baulac 2 shared studies Last author of the 2019 Acta Neuropathologica cohort study showing that focal cortical dysplasia type 2 is a mosaic mTORopathy.
- 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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