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

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

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...

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Bibliographic Details
Main Authors: Gianluigi Laccetta, Simona Fiori, Matteo Giampietri, Annarita Ferrari, Valentina Cetica, Manuela Bernardini, Francesca Chesi, Sara Mazzotti, Elena Parrini, Massimiliano Ciantelli, Andrea Guzzetta, Paolo Ghirri
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-09-01
Series:Frontiers in Pediatrics
Subjects:
KCNQ2
seizures
mutation
benign familial neonatal convulsions
phenobarbital
Online Access:https://www.frontiersin.org/article/10.3389/fped.2019.00348/full

Internet

https://www.frontiersin.org/article/10.3389/fped.2019.00348/full

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