Clinical-genetic Investigations in Children With Early Infantile Epilepsies
- Conditions
- Seizures, InfantileEpilepsy
- Interventions
- Genetic: DNA preparation
- Registration Number
- NCT01357707
- Lead Sponsor
- Markus Schuelke, M.D.
- Brief Summary
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.
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- All
- Target Recruitment
- 75
- Hypsarrhythmia in the first year of life
- Infantile seizures in the first year of life
- Freedom of seizures at the age of 5 years
- brain malformation
- metabolic disorder
- intracranial hemorrhage
- lissencephaly
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Arm && Interventions
Group Intervention Description West Syndrome (idiopathic) DNA preparation Patients with idiopathic infantile seizures
- Primary Outcome Measures
Name Time Method Discovery of a pathogenic mutation in an ion channel gene 4 weeks after taking of the DNA specimen
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (1)
Charité Universitätsmedizin
🇩🇪Berlin, Germany