Key result
PRRT2 gene variants are linked to long-term epilepsy in familial and sporadic cases.
Why the study?
The study aimed to present epilepsy patients with PRRT2 gene variants and review developments in the gene's epilepsy spectrum.
Highlights the clinical spectrum of epilepsy associated with PRRT2 gene variants through case presentations.
PRRT2 variants broaden reported epilepsy phenotypes in rare families; hypothesis-generating and should not yet change clinical practice.
Our aim in this study was to present epilepsy patients in our clinic with variants detected in the PRRT2 gene and to review the developments in the spectrum of this gene. CASE PRESENTATIONSIn this article, we will present two families with a PRRT2 variant and a sporadic case with a homozygous variant in the same gene, followed up in our clinic for epilepsy for years.
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Taşdelen et al. (2023) studied this question. PRRT2 gene variants were characterized in two families and one sporadic homozygous case with a long-term history of epilepsy.
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