Clinical-genetic Investigations in Children With Early Infantile Epilepsies
The project strives to discover novel genetic defects that cause monogenic epilepsy or that genetically modify a preexisting epileptic phenotype. Our main aim is to find genetic causes for the idiopathic West Syndrome (infantile seizures) that are not caused by known cerebral malformation, lissencephaly or metabolic disorders and which have a comparatively benign prognosis.
The investigators hypothesize that mutations in genes coding for ion channels or genes that modify the action of ion channels might be causative.
For that the investigators will perform a sequence analysis of the coding exons of a large set of genes in all recruited patients and verify found mutations in their parents.
|Study Design:||Observational Model: Family-Based
Time Perspective: Prospective
|Official Title:||Clinical-genetic Investigations in Children With Early Infantile Epilepsies|
- Discovery of a pathogenic mutation in an ion channel gene [ Time Frame: 4 weeks after taking of the DNA specimen ] [ Designated as safety issue: No ]
Biospecimen Retention: Samples With DNA
DNA isolated from blood cells or from saliva
|Study Start Date:||July 2010|
|Estimated Study Completion Date:||June 2013|
|Estimated Primary Completion Date:||June 2013 (Final data collection date for primary outcome measure)|
West Syndrome (idiopathic)
Patients with idiopathic infantile seizures
Genetic: DNA preparation
Taking blood or saliva from the patient to prepare DNA therefrom
|Berlin, Germany, 13353|
|Contact: Markus Schuelke, M.D. +49 30 4505 66468 email@example.com|
|Contact: Ellen Knierim, M.D. +49 30 450 539015 firstname.lastname@example.org|
|Principal Investigator: Markus Schuelke, M.D.|
|Sub-Investigator: Ellen Knierim, M.D.|