Progressive Myoclonic Epilepsy, Type 1B (PRICKLE1)
Progressive myoclonic epilepsy, type 1B is an autosomal recessive disorder caused by pathogenic variants in the gene PRICKLE1. The onset of this condition occurs in childhood and often presents with ataxia and movement difficulties. As the disease progresses, dysarthria (slurred speech) and dysphagia (difficulty swallowing) may develop. Seizures typically begin in later childhood, and often occur at night when the individual is sleeping. Many individuals with this disorder live into adulthood, though in some instances it is fatal in childhood. No clear genotype-phenotype correlation has been established.
For information about carrier frequency and residual risk, please see the residual risk table.