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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. Main goals are:
  •  To understand how mutations in the mTOR pathway genes contribute to epileptogenesis and seizures using diverse disease models (patient iPSCS, human brain spheroids, in utero electroporation)
  • To assess the role of brain somatic mutations in human epileptic tissues by means of deep NGS and single cell OMICS;
  • To identify susceptibility genes contributing to genetic generalized epilepsies by means of NGS.

 

Major publications

Contact

stephanie.baulac@icm-institute.org

https://www.baulacleguernepilepsy.com/

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Team members

  • Christel DEPIENNE

    Principal investigator, MD, PhD, MCU-PH, IGBMC

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