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

• Principais autores: Li Zhang (Autor), Zhen-Xia Wan (Autor), Jin-Yi Zhu (Autor), Hui-Juan Liu (Autor), Jin Sun (Autor), Xiao-Hui Zou (Autor), Ting Zhang (Autor), Yan Li (Autor)
• Formato: Livro
• Publicado em: Hindawi Limited, 2024-01-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: 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...