Clinical-genetic Investigations in Children With Early Infantile Epilepsies

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT01357707

Enrollment

Registered

2011-05-23

Start date

2010-07-31

Completion date

2017-12-31

Last updated

2018-02-12

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Epilepsy, Seizures, Infantile

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.

Interventions

GENETICDNA preparation

Taking blood or saliva from the patient to prepare DNA therefrom

Study design

Observational model

FAMILY_BASED

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

5 Years to 10 Years

Healthy volunteers

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

Design outcomes

Primary

Measure	Time frame
Discovery of a pathogenic mutation in an ion channel gene	4 weeks after taking of the DNA specimen

Countries

Germany

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026