A Very Rare Form of Autosomal Dominant Progressive Myoclonus Epilepsy Caused by a Novel Variant in the PRICKLE1 Gene


Progressive myoclonus epilepsy (PME) comprises a group of rare heterogeneous genetic disorders that are generally manifested as a combination of myoclonic and tonic-clonic seizures with cognitive impairment, ataxia and other cerebellar signs, and other neurologic deficits. They are often encompassed under the broader term “catastrophic epilepsies”, which are invariably associated with significant neurological morbidity and often early mortality. This group also include epileptic encephalopathies [1].


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