A de novo KCNQ2 Gene Mutation Associated With Non-familial Early Onset Seizures: Case Report and Revision of Literature Data-Reference-Cited by-同舟云学术

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

Published:2019-09-06 Issue: Volume:7 Page:
ISSN:2296-2360
Container-title:Frontiers in Pediatrics
language:
Short-container-title:Front. Pediatr.

Author:

Laccetta Gianluigi,Fiori Simona,Giampietri Matteo,Ferrari Annarita,Cetica Valentina,Bernardini Manuela,Chesi Francesca,Mazzotti Sara,Parrini Elena,Ciantelli Massimiliano,Guzzetta Andrea,Ghirri Paolo

Funder

Università di Pisa

Publisher

Frontiers Media SA

Subject

Pediatrics, Perinatology and Child Health

Reference55 articles.

1. SCN2A mutations and benign familial neonatal-infantile seizures: the phenotypic spectrum;Herlenius;Epilepsia.,2007

2. Benign familial neonatal convulsions: novel mutation in a newborn;Lee;Pediatr Neurol.,2009

3. KCNQ2-Associated neonatal epilepsy: phenotype might correlate with genotype;Lee;J Child Neurol.,2017

4. A potassium channel mutation in neonatal human epilepsy;Biervert;Science,1998

5. A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns;Singh;Nat Genet.,1998

Cited by 7 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Quantitative Evaluation of White Matter Injury by Cranial Ultrasound to Detect the Effects of Parenteral Nutrition in Preterm Babies: An Observational Study;Journal of Imaging;2024-09-10

2. Newly discovered variants in unexplained neonatal encephalopathy;Molecular Genetics & Genomic Medicine;2024-01

3. “Fifth‐day fits” revisited: A literature review of benign idiopathic neonatal seizures and comparison with KCNQ2‐ and KCNQ3‐associated benign familial epilepsy syndromes;Annals of the Child Neurology Society;2023-09

4. Nine patients with KCNQ2-related neonatal seizures and functional studies of two missense variants;Scientific Reports;2023-02-27

5. KCNQ2 Selectivity Filter Mutations Cause Kv7.2 M-Current Dysfunction and Configuration Changes Manifesting as Epileptic Encephalopathies and Autistic Spectrum Disorders;Cells;2022-03-05