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| ID | Type | Description | Link |
|---|---|---|---|
| SFB 665 TP C4 | Other Grant/Funding Number | Deutsche Forschungsgemeinschaft |
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| Name | Class |
|---|---|
| Mainz University | OTHER |
| University of Ulm | OTHER |
| Ludwig-Maximilians - University of Munich | OTHER |
| University of Kiel |
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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| West Syndrome (idiopathic) | Patients with idiopathic infantile seizures |
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| DNA preparation | Genetic | Taking blood or saliva from the patient to prepare DNA therefrom |
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| Measure | Description | Time Frame |
|---|---|---|
| Discovery of a pathogenic mutation in an ion channel gene | 4 weeks after taking of the DNA specimen |
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Inclusion Criteria:
Exclusion Criteria:
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Patients with infantile seizures without brain malformations, metabolic disorders of lissencephaly who had a good outcome and are seizure free (with or without AEDs) after the age of 5 years.
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Charité Universitätsmedizin | Berlin | 13353 | Germany |
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| ID | Term |
|---|---|
| D004827 | Epilepsy |
| D012640 | Seizures |
| ID | Term |
|---|---|
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D009461 | Neurologic Manifestations |
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| OTHER |
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DNA isolated from blood cells or from saliva
| D012816 | Signs and Symptoms |
| D013568 | Pathological Conditions, Signs and Symptoms |