A Girl with PRRT2 Mutation Presenting with Benign Familial Infantile Seizures Followed by Autistic Regression

Figure 2

Pedigree of the proband. Patients with the c.649dupC PRRT2 heterozygous mutation are indicated as +/m, while those tested negative for the mutation are indicated by +/+. BFIS refers to benign familial infantile seizures. III2 is the proband with the PRRT2 gene mutation and a phenotype of BFIS and autism spectrum disorder. III4 experienced early onset afebrile seizures on the 3rd day of life, received antiepileptic medication before the age of one, went into remission before age 2, and did not undergo whole-exome sequencing testing. I1, II3, and III3 had BFIS before the age of 2, went into remission without medication, and also did not undergo whole-exome sequencing testing.