case_images: PMC11271107_01
case_images: Interictal electroencephalography (EEG) obtained from the youngest sister (third sister) during sleep. The EEG shows interictal spikes in the right central area.
case_images: 10.1177_2050313X241264959-fig1.jpg
case_images: PMC11271107_01_10.1177_2050313X241264959-fig1.jpg
case_images: fig1-2050313X241264959
case_images: Their interictal EEG results were normal, except for the third sister, who showed interictal spikes in the right central area, though only once, during follow-up after the seizures had been brought under control (Figure 1).
case_images: Electropherogram of the direct sequencing. A common insertion mutation, designated c.640_641insC, is shown. The locations of the nucleotide insertion are indicated by an arrow.
case_images: 10.1177_2050313X241264959-fig2.jpg
case_images: PMC11271107_01_10.1177_2050313X241264959-fig2.jpg
case_images: fig2-2050313X241264959
case_images: PRRT2 on family members. Peripheral blood samples were collected, and after DNA extraction, PCR and subsequent Sanger sequencing were performed as described in detail elsewhere.   All three sisters and their father, but not their mother, had the following pathogenic variant in PRRT2: NM_001256442.2(PRRT2):c.649dup [p.(Arg217Profs*8)]. (Figure 2).