For Physicians

We are looking for patients with classical Childhood Absence Epilepsy. Our inclusion criteria are based on three main features: i. Clinical Characteristics, ii. EEG and iii. Response to anti- epileptic medication. For detailed inclusion criteria click here

Patient Recruitment

If you have identified a child with CAE meeting our criteria, we would appreciate if you could make the parents/guardian aware of our study and either hand out our flyer, or direct the family to our website at www.petitmal.com. Alternatively, if the family prefers to be contacted by us to learn more about the study, obtain verbal consent and notify us either by phone at (1 877 223 5900) or via email. Our study personnel will explain the study and study requirements in detail to potential participants and arrange for all study procedures. We are committed to keep time requirements for you and our participants to a minimum.

Methods

To identify the genetic basis of CAE, we will use two approaches: linkage and association methods. For Linkage Analysis we need families with multiple affected members with epilepsy (e.g. multiplex families). Association Studies require "trios", i.e. the child with CAE and his/her parents.

Study Procedures

We will extract DNA from saliva or blood. We provide special containers for saliva collection that can be returned by mail. From families with multiple affecteds, we would prefer to obtain blood instead of saliva because this will provide us with a larger amount of DNA for future studies of gene function. We are willing to visit families' homes for blood drawing.

The Challenge

CAE, like so many other 'familial' diseases such as migraine, asthma or schizophrenia, is considered a 'genetically complex disease'. They are called complex because several genes are probably necessary for the manifestation of the disease. There are most likely several 'absence' genes that interact in various ways, but only a combination of a few might be necessary for the epileptic phenotype. It will therefore be a challenging task to tackle the genetic basis of CAE, but we cannot do this on our own. It will be the combined effort of families that are willing to participate, physicians that refer families to the study, dedicated study personnel that manage the study and last but not least advanced laboratory technology.

Literature