相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Distinct epilepsy phenotypes and response to drugs in KCNA1 gain- and loss-of function variants
Francesco Miceli et al.
EPILEPSIA (2022)
Long-term use of cannabidiol-enriched medical cannabis in a prospective cohort of children with drug-resistant developmental and epileptic encephalopathy
Roberto Caraballo et al.
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY (2022)
Lacosamide effectiveness and tolerability in patients with drug-resistant epilepsy and severe disability under polytherapy: Therapy optimization as emerging from an observational study
Marco Pozzi et al.
EPILEPSY & BEHAVIOR (2022)
Kv1.1 preserves the neural stem cell pool and facilitates neuron maturation during adult hippocampal neurogenesis
Yuan-Hung Lin King et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2022)
Encephalopathy related to status epilepticus during sleep due to a de novo KCNA1 variant in the Kv-specific Pro-Val-Pro motif: phenotypic description and remarkable electroclinical response to ACTH
Angelo Russo et al.
EPILEPTIC DISORDERS (2021)
Musculoskeletal Features without Ataxia Associated with a Novel de novo Mutation in KCNA1 Impairing the Voltage Sensitivity of Kv1.1 Channel
Paola Imbrici et al.
BIOMEDICINES (2021)
Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders
Jan H. Doering et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)
Pediatric adverse reactions to antiseizure medications - An analysis of data from the Italian spontaneous reporting system (2001-2019)
Valentina Franco et al.
EPILEPSY & BEHAVIOR (2021)
KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating
Yongqiang Zhang et al.
HUMAN MOLECULAR GENETICS (2021)
Kv1.1 channels regulate early postnatal neurogenesis in mouse hippocampus via the TrkB signaling pathway
Shu-Min Chou et al.
ELIFE (2021)
Therapeutic Potential of Sodium Channel Blockers as a Targeted Therapy Approach in KCNA1-Associated Episodic Ataxia and a Comprehensive Review of the Literature
Stephan Lauxmann et al.
FRONTIERS IN NEUROLOGY (2021)
Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia
Edgard Verdura et al.
JOURNAL OF MEDICAL GENETICS (2020)
Voltage-dependent gating in K channels: experimental results and quantitative models
Luigi Catacuzzeno et al.
PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY (2020)
Clinical Spectrum of KCNA1 Mutations: New Insights into Episodic Ataxia and Epilepsy Comorbidity
Kelsey Paulhus et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)
Kv1.1 Channelopathies: Pathophysiological Mechanisms and Therapeutic Approaches
Maria Cristina D'Adamo et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)
Two novel KCNA1 variants identified in two unrelated Chinese families affected by episodic ataxia type 1 and neurodevelopmental disorders
Haiming Yuan et al.
MOLECULAR GENETICS & GENOMIC MEDICINE (2020)
Scalable molecular dynamics on CPU and GPU architectures with NAMD
James C. Phillips et al.
JOURNAL OF CHEMICAL PHYSICS (2020)
Persistent sodium current blockers can suppress seizures caused by loss of low-threshold D-type potassium currents: Predictions from an in silico study of K(v)1 channel disorders
Jiaxin Du et al.
EPILEPSIA OPEN (2020)
Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene (vol 27, pg 625, 2018)
Xiao-Meng Yin et al.
HUMAN MOLECULAR GENETICS (2018)
De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants
Amanda Rogers et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2018)
A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions
Paola Imbrici et al.
MOLECULAR AND CELLULAR NEUROSCIENCE (2017)
CHARMM-GUI Input Generator for NAMD, GROMACS, AMBER, OpenMM, and CHARMM/OpenMM Simulations Using the CHARMM36 Additive Force Field
Jumin Lee et al.
JOURNAL OF CHEMICAL THEORY AND COMPUTATION (2016)
Dominant-negative mutation p.Arg324Thr in KCNA1 impairs Kv1.1 channel function in episodic ataxia
Enriqueta Tristan-Clavijo et al.
MOVEMENT DISORDERS (2016)
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
Steffen Syrbe et al.
NATURE GENETICS (2015)
High-resolution molecular genomic autopsy reveals complex sudden unexpected death in epilepsy risk profile
Tara L. Klassen et al.
EPILEPSIA (2014)
A Limited 4 Å Radial Displacement of the S4-S5 Linker Is Sufficient for Internal Gate Closing in Kv Channels
Elise Faure et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2012)
Mechanism of Voltage Gating in Potassium Channels
Morten O. Jensen et al.
SCIENCE (2012)
Mechanism of electromechanical coupling in voltage-gated potassium channels
Rikard Blunck et al.
FRONTIERS IN PHARMACOLOGY (2012)
The Coumarin-Binding Site in Carbonic Anhydrase Accommodates Structurally Diverse Inhibitors: The Antiepileptic Lacosamide As an Example and Lead Molecule for Novel Classes of Carbonic Anhydrase Inhibitors
Claudia Temperini et al.
JOURNAL OF MEDICINAL CHEMISTRY (2010)
Contribution of the central hydrophobic residue in the PXP motif of voltage-dependent K+ channels to S6 flexibility and gating properties
Paola Imbrici et al.
CHANNELS (2009)
A Novel KCNA1 Mutation Associated with Global Delay and Persistent Cerebellar Dysfunction
Michelle K. Demos et al.
MOVEMENT DISORDERS (2009)
A Kv channel with an altered activation gate sequence displays both fast and slow activation kinetics
Alain J. Labro et al.
AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY (2008)
Software news and updates - CHARNIM-GUI: A web-based grraphical user interface for CHARMM
Sunhwan Jo et al.
JOURNAL OF COMPUTATIONAL CHEMISTRY (2008)
A NOVEL KCNA1 MUTATION IDENTIFIED IN AN ITALIAN FAMILY AFFECTED BY EPISODIC ATAXIA TYPE 1
P. Imbrici et al.
NEUROSCIENCE (2008)
Atomic structure of a voltage-dependent K+ channel in a lipid membrane-like environment
Stephen B. Long et al.
NATURE (2007)
Crystal structure of a mammalian voltage-dependent Shaker family K+ channel
SB Long et al.
SCIENCE (2005)
Scanning the intracellular S6 activation gate in the shaker K+ channel
DH Hackos et al.
JOURNAL OF GENERAL PHYSIOLOGY (2002)
分享论文
