The Progressive Myoclonus Epilepsies (PMEs) are a group of uncommon clinically and genetically heterogeneous disorders (mainly autosomal recessive), characterised by myoclonus, generalized epilepsy, and progressive neurological deterioration, including dementia and ataxia [1]. PMEs are disorders with debilitating evolution, resistance to treatment and poor prognosis, and it is estimated that these diseases are responsible for up to 1% of epileptic syndromes in children and adolescents around the world.
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