Epilepsy Clinical Trial
Official title:
The DNA and Cell Bank of IFR of Neurosciences: Clinical and Genetic Study of Parkinson's Disease and Epilepsies
The DNA and Cell Bank of Instituts Federatifs de Recherche (IFR) of Neurosciences has been
running for the last 15 years at the Institut National de la Santé Et de la Recherche
Médicale (INSERM) Unit 679 (former unit 289). Since its creation, this structure has been
the support of research projects in genetics for neurological and psychiatric disorders. The
cohorts established have led to discoveries in monogenic disorders, such as cerebellar
ataxias, spastic paraplegias, frontotemporal dementias, epilepsies, Parkinson’s and
Alzheimer’s disease, Charcot-Marie-Tooth disease and related entities. The research projects
based on the study of the genetic bases in Parkinson’s disease and epilepsies are especially
developed for this grant.
Concerning Parkinson’s disease, the project is based on the extension of the existing cohort
throughout the French Parkinson’s Disease Study Group network. Concerning epilepsies, this
project is the occasion to build this network with the constitution of a new cohort.
The specific aims of the scientific projects are the following for Parkinson’s disease:
- to evaluate the frequency, the nature and the phenotype associated with parkin
mutations in familial or sporadic forms of the disease, according to the age at onset,
and
- to identify the genetic susceptibility factors in Parkinson’s disease with the study of
affected sibpairs and with case/controls association studies.
For epilepsies, the aims are:
- to evaluate the frequency, the nature and the phenotype associated with SCN1A, SCNab
and GABR2 gene mutations in familial or sporadic forms of the affection associated with
febrile seizures, and
- to search for an intervention SCN1A, SCN1B and GABRG2 as susceptible genes in these
forms of epilepsies.
n/a
Observational Model: Case Control, Time Perspective: Longitudinal
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