PRRT2-Associated Disorders: A Phenotypic Spectrum of Paroxysms
DOI:
https://doi.org/10.46531/sinapse/CC/134/2025Keywords:
Central Nervous System Diseases/genetics, Epilepsy/genetics, Infant, Membrane Proteins, Nerve Tissue ProteinsAbstract
PRRT2 is a presynaptic plasma membrane protein involved in neurotransmitter release. Disorders associated with PRRT2 pathogenic variants are a spectrum of clinical conditions with autosomal dominant inheritance, characterized by a paroxysmal presentation. The three main ones are self-limited infantile epilepsy, paroxysmal kinesigenic dyskinesia, and hemiplegic migraine, but other presentations have been reported. Patients carrying PRRT2 variants may present with one or more of these clinical phenotypes simultaneously or subsequently. We report 5 cases of self-limited infantile epilepsy presenting between 4 and 10 months of age and 1 case of paroxysmal kinesigenic dyskinesia presenting at 8 years old, all associated with the c.649dup p.(Arg217Profs*8) PRRT2 heterozygous pathogenic variant. This case series highlights the disease clinical spectrum between and within individuals, phenotypic variability between and within families, good treatment response to sodium channel blockers and self-limiting character.Downloads
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Copyright (c) 2024 Catarina Bernardes, Constança Santos, Joana Amaral , Filipe Palavra, Cristina Pereira, Joana Ribeiro
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
