The team genetically screened 84 patients from different countries, including four patients from Israel, and found the gene in a fifth of them. Moreover: the exact same mutation was found in all of them - a genetic defect that causes the disease
Progressive Myoclonus Epilepsy, (Progressive Myoclonus Epilepsy or PME), is a particularly severe form of epilepsy, which is usually accompanied by other disorders such as movement, speech, and vision limitations. About 2% of all epilepsy patients suffer from this form of the disease, in varying degrees of severity. An international team of researchers has apparently identified one of the genes associated with the serious disease. The team genetically screened 84 patients from different countries, including four patients from Israel, and found the gene in a fifth of them. Moreover: the exact same mutation was found in all of them - a genetic defect that causes the disease. "Finding the gene responsible for the disease enables orderly genetic counseling for the patients' families," explains one of the researchers, Prof. Baruria Ben Ze'ev, director of the Child Neurology Unit at Safra Hospital in Tel Hashomer.
Electrical problem
The gene whose damage causes the disease is responsible for the proper functioning of a potassium channel - one of the proteins that regulate the electrical potential of the cell, which is why they are so important in the brain and nervous system. "The discovery opens the door to research looking for a drug that will affect the functioning of the potassium channel, and possibly lead to the treatment of epileptic seizures and other manifestations of the disease," says Ben Zeev. The research findings are published in the journal Nature Genetics, and are the result of the collaboration of the International Epilepsy Research Consortium, which includes scientists and doctors from 17 countries. In addition to Ben Zeev, members of the Israeli research team are Prof. Rachel Strausberg from Schneider Hospital and Dr. Zaid Afavi, who also works at Ben Gurion University. All three are also researchers at the School of Medicine at Tel Aviv University.
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The research article in the journal Nature Genetics
