Gene Associated With Epilepsy Discovered

A group of scientists has discovered a new gene which is associated with the brain disorder epilepsy.

While the PRICKLE1 gene mutation was specific to a rare form of epilepsy, the study results could help lead to new ideas for overall epilepsy treatment.

Fits | Epilepsy | Convulsions - Causes Symptoms Diagnosis Treatment FAQs
Fits or convulsions or Epilepsy is characterized by recurrent, involuntary seizures and is described as a chronic neurological disorder

The findings, which involved nearly two dozen institutions from six different countries, appear in the Nov. 7 issue of the American Journal of Human Genetics.

In epilepsy, nerve cells in the brain signal abnormally and cause repeated seizures that can include strange sensations, severe muscle spasms and loss of consciousness.

The seizures may not have lasting effects but can affect activities, such as limiting a person's ability to drive. Most seizures do not cause brain damage but some types of epilepsy lead to physical disabilities and cognitive problems. Medications can control symptoms, but there is no cure.

Epilepsy and Slides
Epilepsy is a medical condition where the brain cells fire abnormal electrical signals that physically manifests as a ‘Seizure’. There should be two or more seizures before the term epilepsy should be used.

"The study results were surprising not only because the PRICKLE1 gene had never been associated with epilepsy but also because the gene was not associated with any other human disease," said the study's lead author Alex Bassuk, M.D., Ph.D., assistant professor of pediatrics at the University of Iowa Carver College of Medicine and a pediatric neurologist with University of Iowa Children's Hospital.

The nine families involved in the study all lived in the Middle East and came from one of three family lines. Of the 47 individuals in the three family lines, 23 had a form of progressive myoclonus epilepsy accompanied by ataxia, a condition that causes imbalance.

Bassuk, who had only recently joined the UI, realized through online research that the PRICKLE1 gene in zebrafish had been previously identified by another University of Iowa researcher, Diane Slusarki, Ph.D., associate professor of biology in the UI College of Liberal Arts and Sciences.

Slusarki and Bassuk's collaboration revealed that the mutated PRICKLE1 gene does not behave normally in zebrafish.

Cause for Sudden Death in Epilepsy Patients Revealed
Researchers at UC Davis Medical Centre have revealed that sudden death in epilepsy patients might be a result of significant drop in oxygen levels during seizures.

Bassuk, and colleagues are now developing other animal models to investigate how PRICKLE1 gene is involved in epilepsy, and are investigating whether PRICKLE1 mutations are involved in the general population of patients with epilepsy.

Source-ANI
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