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Team “Genetics and physiopathology of epilepsy”

Presentation

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

Contact

stephanie.baulac@icm-institute.org

https://www.baulacleguernepilepsy.com/

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Team members

  • Caroline NAVA

    Principal investigator, MD, PhD, MCU-PH, Sorbonne University/APHP

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  • Christel DEPIENNE

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

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