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Team “Genetics and physiopathology of epilepsy”


Physiopathology of neurological disorders Main domain : Cellular & molecular neurosciences Subdomain : Clinical & translational neurosciences Stéphanie BAULAC & Eric LEGUERN’s team investigates the focal epilepsies linked to mTORC1 pathway, Focal cortical dysplasias, epileptic encephalopathies and genetic generalized epilepsies through three main aims:
  • To understand how mutations in the mTOR pathway genes contribute to epileptogenesis and seizures, and the role of brain somatic mutations
  • To characterize pathophysiological mechanisms of HCN1-epileptic encephalopathy, identify new genetic causes of fever-sensitive epileptic encephalopathies, and search for factors modulating the severity of the phenotype.
  • To explore how mutations found by the team in several presynaptic proteins lead to genetic generalized epilepsies (GGE).


Major publications


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Team members

  • Christel DEPIENNE

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

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