Infantile Spasms associated with a Pathogenic PRRT2 Variant

We read with interest the article by Streff, et al. in the September, 2020 issue of Pediatric Neurology that described a family with a TSC1 variant and members manifesting mild or no clinical manifestations of Tuberous Sclerosis. This observation underscores pleiotropy of known pathogenic variants. We would like to highlight the case of PRRT2 gene, which has been described mostly in association with relatively benign neurological conditions, including paroxysmal kinesigenic dyskinesia, benign familial infantile epilepsy, paroxysmal kinesigenic dyskinesia and infantile convulsions, hemiplegic migraine, paroxysmal torticollis, episodic ataxia, and infantile seizures with fever.

Source: Pediatric Neurology - October 23, 2020 Category: Neurology Authors: Saba Jafarpour, Jay Desai Tags: Correspondence Source Type: research