Primary objective: To set up a repository of genetic material from a large group of well phenotyped people with epilepsy patients to allow the case control association studies, to analyze and detect genetic risk factors for epilepsy. Secondary…
ID
Source
Brief title
Condition
- Seizures (incl subtypes)
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
Genetic variation in genes that potentially predispose to epilepsy, yet have
limited predictive value at an invidual level.
Secondary outcome
None
Background summary
The epilepsies are likely to be due to a combination of genetic and
environmental factors or are triggered by an interaction of such factors in
susceptible individuals. Some of the genetic risk factors have been identified
by examining families with (rare) hereditary epilepsies. Epileptic disorders
have been associated to mutations in genes that code ion channels, or neuronal
receptors, but also in genes that have no direct relation to neuronal
electrophysiology. The study of epilepsy genes may contribute to a better
understanding of the molecular mechanisms, and lead to the development of
better therapies for the condition.
Study objective
Primary objective: To set up a repository of genetic material from a large
group of well phenotyped people with epilepsy patients to allow the case
control association studies, to analyze and detect genetic risk factors for
epilepsy.
Secondary objective: To examine in this cohort genetic factors that determine
refractoriness to anti-epileptic medication and common side-effects of
anti-epileptic medication.
Study design
Collection of cases for a case control study.
Study burden and risks
The burden of participation will be a single venapuncture for 20 ml of blood
and supplying some additional information. The benefit will be that more
knowledge of the disease will be achieved when important genetic risk factors
are identified. The secondary objectives will contribute to the improvement of
the treatments for epilepsy.
Universiteitsweg 100
3584CG
NL
Universiteitsweg 100
3584CG
NL
Listed location countries
Age
Inclusion criteria
- Any patient regardless of age or gender willing and able to provide informed consent ;- Children and persons unable to consent may be included if their parents or legal representative provide informed assent ;- A firm diagnosis of epilepsy based either on history, clinical examination or EEG regardless of type with a history of at least two independent epileptic seizures. ;- Etiological diagnosis supported by imaging, whenever appropriate
Exclusion criteria
- Patient unwilling to provide consent or if parents or legal representative are unwilling to assent. ;- Diagnosis of epilepsy not corroborated by ancillary investigations ;- Age under 12 years
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL29090.041.09 |