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Team “Genetics and physiopathology of epilepsy”

Presentation

Stéphanie Baulac & Eric Leguern’s team aims to unravel the molecular and cellular mechanisms underlying focal epilepsies with malformations of the cortical development, developmental & epileptic Encephalopathies and genetic generalized epilepsies.

 

Our research work builds on the recently recognized concept that the human brain is a genetic mosaic arising from somatic mutations during neurodevelopment and uses multiple approaches, from genetic and genomic studies on resected epileptic brain tissues, to in vitro functional testing using brain organoids, and in vivo approaches in mouse models.

 

The research program is organized into three main aims: (1) elucidate the genetic etiology of epileptogenic cortical malformations (particularly Focal Cortical Dysplasia); (2) unveil pathogenic mechanisms and neurodevelopmental events underlying focal epilepsies by determining the cell-type specific determinants in cortical organoids and mice models; (3) investigate innovative ultra-precision novel targeted therapeutics.

Significant publications

Contact

stephanie.baulac@icm-institute.org

https://www.baulacleguernepilepsy.com/

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Team members