The Epilepsy of Infancy With Migrating Focal Seizures: Identification of de novo Mutations of the KCNT2 Gene That Exert Inhibitory Effects on the Corresponding Heteromeric KNa1.1/KNa1.2 Potassium Channel
Published 2020 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
The Epilepsy of Infancy With Migrating Focal Seizures: Identification of de novo Mutations of the KCNT2 Gene That Exert Inhibitory Effects on the Corresponding Heteromeric KNa1.1/KNa1.2 Potassium Channel
Authors
Keywords
-
Journal
Frontiers in Cellular Neuroscience
Volume 14, Issue -, Pages -
Publisher
Frontiers Media SA
Online
2020-01-24
DOI
10.3389/fncel.2020.00001
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Genetic compensation triggered by mutant mRNA degradation
- (2019) Mohamed A. El-Brolosy et al. NATURE
- Measuring intolerance to mutation in human genetics
- (2019) Zachary L. Fuller et al. NATURE GENETICS
- De novo gain-of-function variants in KCNT2 as a novel cause of developmental and epileptic encephalopathy
- (2018) Paolo Ambrosino et al. ANNALS OF NEUROLOGY
- Potassium Channel Gain of Function in Epilepsy: An Unresolved Paradox
- (2018) Zachary Niday et al. NEUROSCIENTIST
- Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H
- (2017) Sarah B. Mulkey et al. EPILEPSIA
- The Phe932Ile mutation in KCNT1 channels associated with severe epilepsy, delayed myelination and leukoencephalopathy produces a loss-of-function channel phenotype
- (2017) Katherine M. Evely et al. NEUROSCIENCE
- A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy
- (2017) Sushmitha Gururaj et al. Cell Reports
- Heteromeric Slick/Slack K+ channels show graded sensitivity to cell volume changes
- (2017) Maria A. Tejada et al. PLoS One
- A Kv7.2 mutation associated with early onset epileptic encephalopathy with suppression-burst enhances Kv7/M channel activity
- (2016) Jérôme Devaux et al. EPILEPSIA
- Characterization of two de novo KCNT1 mutations in children with malignant migrating partial seizures in infancy
- (2016) Francesca Rizzo et al. MOLECULAR AND CELLULAR NEUROSCIENCE
- Potassium Channels and Human Epileptic Phenotypes: An Updated Overview
- (2016) Chiara Villa et al. Frontiers in Cellular Neuroscience
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Identification of the Intracellular Na+Sensor in Slo2.1 Potassium Channels
- (2015) Steven J. Thomson et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Differential distribution of the sodium-activated potassium channels slick and slack in mouse brain
- (2015) Sandra Rizzi et al. JOURNAL OF COMPARATIVE NEUROLOGY
- Early-Onset Epileptic Encephalopathy Caused by Gain-of-Function Mutations in the Voltage Sensor of Kv7.2 and Kv7.3 Potassium Channel Subunits
- (2015) F. Miceli et al. JOURNAL OF NEUROSCIENCE
- A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels
- (2015) Affef Abidi et al. NEUROBIOLOGY OF DISEASE
- SCN2Aencephalopathy
- (2015) Katherine B. Howell et al. NEUROLOGY
- Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures
- (2015) Tommy Stödberg et al. Nature Communications
- Early onset epileptic encephalopathy caused by de novoSCN8Amutations
- (2014) Chihiro Ohba et al. EPILEPSIA
- SLC25A22is a novel gene for migrating partial seizures in infancy
- (2013) Annapurna Poduri et al. ANNALS OF NEUROLOGY
- Dominant-negative effects ofKCNQ2mutations are associated with epileptic encephalopathy
- (2013) Gökce Orhan et al. ANNALS OF NEUROLOGY
- Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum
- (2013) Amy McTague et al. BRAIN
- A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy
- (2013) Atsushi Ishii et al. GENE
- Novel Compound Heterozygous Mutations inTBC1D24Cause Familial Malignant Migrating Partial Seizures of Infancy
- (2013) Mathieu Milh et al. HUMAN MUTATION
- Identification of a Novel de Novo p.Phe932Ile KCNT1 Mutation in a Patient With Leukoencephalopathy and Severe Epilepsy
- (2013) Adeline Vanderver et al. PEDIATRIC NEUROLOGY
- Genotype–phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of Kv7.2 potassium channel subunits
- (2013) Francesco Miceli et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy
- (2012) Annapurna Poduri et al. EPILEPSIA
- Sodium-Activated Potassium Channels Are Functionally Coupled to Persistent Sodium Currents
- (2012) T. A. Hage et al. JOURNAL OF NEUROSCIENCE
- De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy
- (2012) Giulia Barcia et al. NATURE GENETICS
- Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias
- (2011) J.-L. Wang et al. BRAIN
- Exome Sequencing of Ion Channel Genes Reveals Complex Profiles Confounding Personal Risk Assessment in Epilepsy
- (2011) Tara Klassen et al. CELL
- De novo SCN1A mutations in migrating partial seizures of infancy
- (2011) D. Carranza Rojo et al. NEUROLOGY
- Duplication 16p11.2 in a child with infantile seizure disorder
- (2010) Jirair K. Bedoyan et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- The N-Terminal Domain of Slack Determines the Formation and Trafficking of Slick/Slack Heteromeric Sodium-Activated Potassium Channels
- (2009) H. Chen et al. JOURNAL OF NEUROSCIENCE
- Na+-activated K+ channels express a large delayed outward current in neurons during normal physiology
- (2009) Gonzalo Budelli et al. NATURE NEUROSCIENCE
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreDiscover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversation