Synergene Biotechnology, in collaboration with Dr. Hatem El-Shanti, associate professor of Pediatrics, Division of Medical Genetics, Carver College of Medicine, University of Iowa is actively involved in intense research for the mapping, identification and characterization of genes causing epilepsy. The research is being carried out utilizing large families of Arabic origin with individuals affected by epilepsy (Families 1, 2 & 3).

Epilepsy is a central nervous system disorder characterized by unprovoked, recurrent seizures that disrupt communication among brain cells. Seizures are characterized by abnormal electrical activity in the brain, which causes an involuntary change in body movement or function, sensation, awareness, or behavior. The likelihood of experiencing the onset of seizures is highest in the first year of life. The incidence of epilepsy decreases in adolescence and remains relatively constant until about age 60, after which it rises dramatically. The overall risk of ever having a seizure is about 9%, whereas about 3% of the population will be diagnosed with epilepsy after having more than one seizure. In the United States, more than 2 million people are being treated for epilepsy. Many more cases are likely, but undetected. Epilepsy and seizures result in an estimated annual cost of $12.5 billion in medical costs and lost or reduced earnings and production.

No single cause has been determined for the vast majority of epilepsy cases. The disorder may be the result of multiple factors including: problems during fetal development, birth and neonatal injuries, congenital or metabolic disorders, vascular lesions, drug or alcohol abuse, neoplasia, infection, head injuries, stroke, brain tumor, poisoning, and inherited conditions. Treatment methods commonly involve antiepileptic drugs, diet and possibly surgery, and are successful in controlling seizures for about 75% of the epilepsy population. Nonetheless, the disorder can be a life-altering condition for persons affected by it, even if it is successfully treated.

These life-altering effects result in part from the unpredictability of the seizures, which can curtail, to some degree, daily activities such as driving, school attendance, and employment. Persons with epilepsy and seizures also contend with the discrimination and misunderstanding of those around them - the results of decades of stigma and misunderstanding about the disorder and its consequences. Even with its unique manifestations, epilepsy shares characteristics with a variety of chronic conditions. It affects many aspects of a person's life, it is relatively difficult to detect, and it tends to contribute to morbidity rather than mortality.

Identifying large inbred families with individuals affected by epilepsy is the key to the mapping and identification of autosomal recessive genes and the underlying gene defects. This, in turn, can open the way to diagnostic testing, pre-marital screening and pre-natal diagnosis that can be offered to at-risk members within affected families. Identification of genes and their underlying defects is also the first essential step in understanding the gene function and the underlying biological pathways for drug targeting and alternate therapeutic modalities. Only through this can intervention and possible therapies become a reality.

The size of Arabic families is usually large, with 4 or more children per couple. For healthy parents who are carriers of gene defects associated with hereditary diseases like Epilepsy, a large number of children increases the probability that one of them will be affected by the disorder. Consanguinity, defined as marriage between third cousins or more closely related, is socially accepted. If a healthy carrier of a gene defect marries from within his family, there will be a much greater chance for one or more of the children to be affected by an autosomal recessive hereditary disease than if the spouse is not a relative.

Family 1

Family 2

Family 3

Some Epilepsy links:

http://www.geocities.com/geneinfo/conditions/epilepsyb.html
http://www.geocities.com/geneinfo/conditions/epilepsya.html
http://www.noah-health.org/english/illness/neuro/epilepsy.html
http://www.nlm.nih.gov/medlineplus/epilepsy.html
http://health.discovery.com/minisites/dna/epilep.html
http://www.eurepa.de/
http://www.erf.org.uk/
http://www.ilae-epilepsy.org/
http://www.epilepsynse.org.uk/pages/index/home/
http://www.epilepsy.com/
http://www.ninds.nih.gov/health_and_medical/disorders/epilepsy.htm
http://137.172.248.46/epilepsy.htm
http://www.cdc.gov/nccdphp/epilepsy/index.htm
http://home.earthlink.net/~mchee1/episynd.html

Maltese associations

http://www.ilae-epilepsy.org/chapter/malta.cfm
http://www.caritasmalta.org/page01.htm