A scientist and pediatric neurologist from Turkey's southern Kahramanmaraş has discovered a new gene associated with a rare case of epilepsy that occurs in early childhood and has been detected in only 12 people around the world.
Northern epilepsy syndrome (NE), or progressive epilepsy with mental retardation (EPMR), was first identified in two Finnish patients in 1995.
With the support of the Scientific and Technological Research Council of Turkey (TÜBİTAK), Professor Cengiz Dilber launched a study on epilepsy in 2016 and diagnosed five patients with the syndrome in Turkey, finding the first traces of the rare disease in the country.
Dilber's recent discovery of a new gene linked to the NE syndrome is sparking hopes of a treatment.
The Turkish scientist said that they have identified three new cases in children who are the offspring of consanguineous (blood relation) parents.
Unlike the other 12 diagnoses, the three new patients, twin siblings and their cousin, have good eyesight, he added.
The rare disease is caused by mutations in the CLN8 gene and its symptoms usually start between the ages of 5 and 10 years old, with seizures.
