Clinical-genetic Investigations in Children With Early Infantile Epilepsies

NCT ID: NCT01357707

Last Updated: 2018-02-12

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

75 participants

Study Classification

OBSERVATIONAL

Study Start Date

2010-07-31

Study Completion Date

2017-12-31

Brief Summary

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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

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Conditions

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Epilepsy Seizures, Infantile

Study Design

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Observational Model Type

FAMILY_BASED

Study Time Perspective

PROSPECTIVE

Study Groups

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West Syndrome (idiopathic)

Patients with idiopathic infantile seizures

DNA preparation

Intervention Type GENETIC

Taking blood or saliva from the patient to prepare DNA therefrom

Interventions

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DNA preparation

Taking blood or saliva from the patient to prepare DNA therefrom

Intervention Type GENETIC

Eligibility Criteria

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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
Minimum Eligible Age

5 Years

Maximum Eligible Age

10 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Mainz University

OTHER

Sponsor Role collaborator

University of Ulm

OTHER

Sponsor Role collaborator

Ludwig-Maximilians - University of Munich

OTHER

Sponsor Role collaborator

University of Kiel

OTHER

Sponsor Role collaborator

Markus Schuelke, M.D.

OTHER

Sponsor Role lead

Responsible Party

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Markus Schuelke, M.D.

Prinicpal investigator

Responsibility Role SPONSOR_INVESTIGATOR

Locations

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Charité Universitätsmedizin

Berlin, , Germany

Site Status

Countries

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Germany

Other Identifiers

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SFB 665 TP C4

Identifier Type: OTHER_GRANT

Identifier Source: secondary_id

EA1_215_08

Identifier Type: -

Identifier Source: org_study_id

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