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Clinical-genetic Investigations in Children With Early Infantile Epilepsies

NCT01357707 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 75

Last updated 2018-02-12

No results posted yet for this study

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.

Conditions

Interventions

GENETIC

DNA preparation

Taking blood or saliva from the patient to prepare DNA therefrom

Sponsors & Collaborators

  • Mainz University

    collaborator OTHER

  • University of Ulm

    collaborator OTHER

  • Ludwig-Maximilians - University of Munich

    collaborator OTHER

  • University of Kiel

    collaborator OTHER

  • Markus Schuelke, M.D.

    lead OTHER

Eligibility

Min Age
5 Years
Max Age
10 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2010-07-31
Primary Completion
2017-12-31
Completion
2017-12-31

Countries

  • Germany

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01357707 on ClinicalTrials.gov