A de novo KCNQ2 Gene Mutation Associated With Non-familial Early Onset Seizures: Case Report and Revision of Literature Data

• Main Authors: Gianluigi Laccetta (Author), Simona Fiori (Author), Matteo Giampietri (Author), Annarita Ferrari (Author), Valentina Cetica (Author), Manuela Bernardini (Author), Francesca Chesi (Author), Sara Mazzotti (Author), Elena Parrini (Author), Massimiliano Ciantelli (Author), Andrea Guzzetta (Author), Paolo Ghirri (Author)
• Format: Book
• Published: Frontiers Media S.A., 2019-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Among neonatal epileptic syndromes, benign familial neonatal seizures (BFNS) are often due to autosomal-dominant mutations of the KCNQ2 gene. Seizures are usually characterized by asymmetric tonic posturing with apnea with onset in the first 7 days of life; they may even occur more than 10 times per...