Clinical-genetic Investigations in Children With Early Infantile Epilepsies

Markus Schuelke, M.D.

Status: Completed

Conditions: Epilepsy; Seizures, Infantile

Treatments: Genetic: DNA preparation

Study type: Observational

Funder types: Other

Identifiers

NCT01357707

SFB 665 TP C4 (Other Grant/Funding Number)

EA1_215_08

Details and patient eligibility

About

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.

Enrollment: 75 patients

Sex: All

Ages: 5 to 10 years old

Volunteers: No 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

Trial design

75 participants in 1 patient group

West Syndrome (idiopathic)

Description:

Patients with idiopathic infantile seizures

Treatment:

Genetic: DNA preparation