alexa Progressive myoclonus epilepsy

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Progressive myoclonus epilepsy

Progressive myoclonus epilepsies (PME) are drastic, rare forms and are due to hereditary metabolic disorders. Their main symptoms include epileptic seizures, weaken involuntary muscle movement. Muscle rigidity, and mental deterioration are also reported. Studies of 84 patients with PME of unknown cause are involved. Scientists used DNA sequencing to know the main genetic causes of the disorder. The team of scientists used method of sequencing protein coding elements particular to Human Genome. They managed to identify genetic causes in nearly a third of the PME patients (26 patients, 31%).No evidence of mutation of potassium ion channel gene had shown earlier for 13% of PME Cases. Remarkably, the team found that a unknown mutation in a potassium ion channel gene as KCNC1 - present in 11 (13%) of the 84 patients and another two (7%) patients in a secondary cohort. They concluded this mutation as “De novo" mutation i.e. not inherited from the patient’s biological parents. The mutation site is an example of a 'mutation hotspot' of the genome - a DNA nucleotide which is more prone for alterations. This mutation stops the potassium channel which plays a key role in signal transmission of brain. Researcher’s also concluded that this mutation also leads to degeneration of the cerebellum - a region of the brain that plays an important role in movement control - and subtle cognitive decline in some cases.


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