Clinical-genetic Investigations in Children With Early Infantile Epilepsies
|ClinicalTrials.gov Identifier: NCT01357707|
Recruitment Status : Completed
First Posted : May 23, 2011
Last Update Posted : February 12, 2018
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.
|Condition or disease||Intervention/treatment|
|Epilepsy Seizures, Infantile||Genetic: DNA preparation|
|Study Type :||Observational|
|Actual Enrollment :||75 participants|
|Official Title:||Clinical-genetic Investigations in Children With Early Infantile Epilepsies|
|Study Start Date :||July 2010|
|Primary Completion Date :||December 31, 2017|
|Study Completion Date :||December 31, 2017|
West Syndrome (idiopathic)
Patients with idiopathic infantile seizures
Genetic: DNA preparation
Taking blood or saliva from the patient to prepare DNA therefrom
- Discovery of a pathogenic mutation in an ion channel gene [ Time Frame: 4 weeks after taking of the DNA specimen ]
Biospecimen Retention: Samples With DNA
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01357707
|Berlin, Germany, 13353|