Associated Papers
MLe-KCNQ2: An Artificial Intelligence Model for the Prognosis of Missense KCNQ2 Gene Variants.
Saez-Matia A et al.
International Journal of Molecular Sciences, 2024
Fifty years of gating currents and channel gating.
Catacuzzeno L et al.
The Journal of General Physiology, 2023
Comparison of Genetic Profiles of Neonates in Intensive Care Units Conceived With or Without Assisted Reproductive Technology.
Huang Z et al.
Jama Network Open, 2023
Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean.
Verberne EA et al.
American Journal of Medical Genetics. Part A, 2022
High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity.
Vanoye CG et al.
Jci Insight, 2022
KCNQ2 Selectivity Filter Mutations Cause Kv7.2 M-Current Dysfunction and Configuration Changes Manifesting as Epileptic Encephalopathies and Autistic Spectrum Disorders.
Lee IC et al.
Cells, 2022
Early initial video-electro-encephalography combined with variant location predict prognosis of KCNQ2-related disorder.
Xu Y et al.
Bmc Pediatrics, 2021
Structural Mechanism of ω-Currents in a Mutated Kv7.2 Voltage Sensor Domain from Molecular Dynamics Simulations.
Alberini G et al.
Journal of Chemical Information and Modeling, 2021
Molecular basis for ligand activation of the human KCNQ2 channel.
Li X et al.
Cell Research, 2021
Epileptic channelopathies caused by neuronal Kv7 (KCNQ) channel dysfunction.
Nappi P et al.
Pflugers Archiv : European Journal of Physiology, 2020
Facial myokymia in inherited peripheral nerve hyperexcitability syndrome.
Camelo CG et al.
Practical Neurology, 2020
Identifying mutation hotspots reveals pathogenetic mechanisms of KCNQ2 epileptic encephalopathy.
Zhang J et al.
Scientific Reports, 2020
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.
Millichap JJ et al.
Neurology. Genetics, 2016
Variable clinical expression in patients with mosaicism for KCNQ2 mutations.
Milh M et al.
American Journal of Medical Genetics. Part A, 2015
Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A.
Soldovieri MV et al.
Human Mutation, 2014
Biophysics, pathophysiology, and pharmacology of ion channel gating pores.
Moreau A et al.
Frontiers in Pharmacology, 2014
Neonatal seizures associated with a severe neonatal myoclonus like dyskinesia due to a familial KCNQ2 gene mutation.
Blumkin L et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2012
The Voltage-Sensing Domain of K(v)7.2 Channels as a Molecular Target for Epilepsy-Causing Mutations and Anticonvulsants.
Miceli F et al.
Frontiers in Pharmacology, 2011
Nervous system KV7 disorders: breakdown of a subthreshold brake.
Maljevic S et al.
The Journal of Physiology, 2008
Neutralization of a negative charge in the S1-S2 region of the KV7.2 (KCNQ2) channel affects voltage-dependent activation in neonatal epilepsy.
Wuttke TV et al.
The Journal of Physiology, 2008
Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations.
Wuttke TV et al.
Neurology, 2007
Correlating the clinical and genetic features of benign familial neonatal seizures (BFNS) with the functional consequences of underlying mutations.
Soldovieri MV et al.
Channels (austin, Tex.), 0
[Omega pore, an alternative ion channel permeation pathway involved in the development of several channelopathies].
Moreau A et al.
Medecine Sciences : M/s, 0
KCNQ2 Encephalopathy and Effect of Early Treatment on the Clinical Phenotype.
Kamate M et al.
Annals of Indian Academy of Neurology, 0