An international team of scientists has identified a new genetic cause of progressive myoclonic epilepsy (such as Lafora syndrome), one of the most devastating and rare forms of this disease that arises in early childhood and can lead to early death. The finding has been published in the journal Nature Genetics .
Progressive myoclonic epilepsy (EMP) is characterized by involuntary muscle spasms, seizures, muscle stiffness, and cognitive impairment and instability. The scientists, who recruited 84 patients with this disease, used DNA sequencing to identify possible genetic causes of this disorder, discovering that a previously unknown mutation in a potassium ion channel gene, called KCNC1, was present in the 13 % of EMP patients .
To the surprise of scientists, this mutation is not inherited from the biological parents of the patients, but rather new mutations that occur in cell division or in the copy of genetic material . All humans have dozens of these mutations, but they rarely cause disease.
Because this type of mutation occurs in a known ion channel, there is hope to be able to develop a drug-based therapy that restores this function: “There are antiepileptic drugs on the market that target other similar ion channels and the follow-up The aim of the research is to discover a way to rescue the function of this channel in patients with progressive myoclonic epilepsy ”, explains Anna-Elina Lehesjoki.
