Variable Phenotypes in the Same Patient with PRRT2-Associated Disorders
Mariana Loos,
Maria Sol Touzon,
Gabriela Reyes
et al.
Abstract:Mutations in the PRRT2 gene lead to a spectrum of diseases with a common pathophysiology including self-limited (familial) infantile epilepsy and paroxysmal kinesigenic dyskinesia as well as other paroxysmal diseases involving movement and headache disorders. Atypical phenotypes, associated with episodic ataxia, epilepsy, hemiplegic migraine, developmental delay, and intellectual disability, have been reported in approximately 5% of the patients, which is probably an underestimation. Here, we present three pat… Show more
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