Clinical-genetic Investigations in Children With Early Infantile Epilepsies

Markus Schuelke, M.D.75 enrolled

Overview

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 Type

OBSERVATIONAL

Enrollment

Conditions

Epilepsy Seizures, Infantile

Interventions

DNA preparationGENETIC

Taking blood or saliva from the patient to prepare DNA therefrom

Sex: ALLMin age: 5 YearsMax age: 10 Years

Medical Language ↔ Plain English

Inclusion Criteria: * Hypsarrhythmia in the first year of life * Infantile seizures in the first year of life * Freedom of seizures at the age of 5 years Exclusion Criteria: * brain malformation * metabolic disorder * intracranial hemorrhage * lissencephaly

Locations (1)

Charité Universitätsmedizin

Berlin, Germany

Outcomes

Primary Outcomes

Discovery of a pathogenic mutation in an ion channel gene

Time frame: 4 weeks after taking of the DNA specimen

Data from ClinicalTrials.gov

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