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

• Main Authors: Li Zhang (Author), Zhen-Xia Wan (Author), Jin-Yi Zhu (Author), Hui-Juan Liu (Author), Jin Sun (Author), Xiao-Hui Zou (Author), Ting Zhang (Author), Yan Li (Author)
• Format: Book
• Published: Hindawi Limited, 2024-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Benign familial infantile seizure (BFIS) is an autosomal dominant infantile-onset epilepsy syndrome with a typically benign prognosis. It is commonly associated with heterozygous mutations of the PRRT2 gene located on chromosome 16p11.2. The frameshift heterozygous mutation (c.649dupC, p.Arg217Profs...