Cargando…

Single-channel Properties of Human Na(V)1.1 and Mechanism of Channel Dysfunction in SCN1A-associated Epilepsy

Mutations in genes encoding neuronal voltage-gated sodium channel subunits have been linked to inherited forms of epilepsy. The majority of mutations (>100) associated with generalized epilepsy with febrile seizures plus (GEFS+) and severe myoclonic epilepsy of infancy (SMEI) occur in SCN1A encod...

Descripción completa

Detalles Bibliográficos
Autores principales:	Vanoye, Carlos G., Lossin, Christoph, Rhodes, Thomas H., George, Alfred L.
Formato:	Texto
Lenguaje:	English
Publicado:	The Rockefeller University Press 2006
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2151481/ https://www.ncbi.nlm.nih.gov/pubmed/16380441 http://dx.doi.org/10.1085/jgp.200509373

Ejemplares similares

Epilepsy-associated SCN2A (Na(V)1.2) Variants Exhibit Diverse and Complex Functional Properties
por: Thompson, Christopher H., et al.
Publicado: (2023)

Epilepsy-associated SCN2A (Na(V)1.2) variants exhibit diverse and complex functional properties
por: Thompson, Christopher H., et al.
Publicado: (2023)

Mechanism of sodium channel Na(V)1.9 potentiation by G-protein signaling
por: Vanoye, Carlos G., et al.
Publicado: (2013)

The Na(v) channel bench series: Plasmid preparation()
por: Feldman, Daniel H., et al.
Publicado: (2014)

Changes of Resurgent Na(+) Currents in the Na(v)1.4 Channel Resulting from an SCN4A Mutation Contributing to Sodium Channel Myotonia
por: Huang, Chiung-Wei, et al.
Publicado: (2020)

Modeling Na(V)1.1/SCN1A sodium channel mutations in a microcircuit with realistic ion concentration dynamics suggests differential GABAergic mechanisms leading to hyperexcitability in epilepsy and hemiplegic migraine
por: Lemaire, Louisiane, et al.
Publicado: (2021)

Novel SCN1A mutation in the IFMT motif of the α1 subunit of the voltage-gated NaV1.1 channel causing familial hemiplegic migraine
por: De Vries, B, et al.
Publicado: (2013)

Structure-Based Identification and Characterization of Inhibitors of the Epilepsy-Associated K(Na)1.1 (KCNT1) Potassium Channel
por: Cole, Bethan A., et al.
Publicado: (2020)

The neonatal SCN2A mutant channel mimics adult channel properties
por: Muller, Grace K.
Publicado: (2020)

Sodium channel SCN8A (Na(v)1.6): properties and de novo mutations in epileptic encephalopathy and intellectual disability
por: O'Brien, Janelle E., et al.
Publicado: (2013)

Painful and painless mutations of SCN9A and SCN11A voltage-gated sodium channels
por: Baker, Mark D., et al.
Publicado: (2020)

Mechanisms of KCNQ1 channel dysfunction in long QT syndrome involving voltage sensor domain mutations
por: Huang, Hui, et al.
Publicado: (2018)

Calcium Channel Dysfunction in Epilepsy: Gain of CACNA1E
por: Carvill, Gemma L.
Publicado: (2019)

Variable patterns of mutation density among Na(V)1.1, Na(V)1.2 and Na(V)1.6 point to channel-specific functional differences associated with childhood epilepsy
por: Encinas, Alejandra C., et al.
Publicado: (2020)

Cellular and behavioral effects of altered Na(V)1.2 sodium channel ion permeability in Scn2a(K1422E) mice
por: Echevarria-Cooper, Dennis M, et al.
Publicado: (2022)

Pseudohypoaldosteronism type 1 and Liddle’s syndrome mutations that affect the single-channel properties of the epithelial Na(+) channel
por: Boiko, Nina, et al.
Publicado: (2015)

Allosteric mechanism for KCNE1 modulation of KCNQ1 potassium channel activation
por: Kuenze, Georg, et al.
Publicado: (2020)

Upgraded molecular models of the human KCNQ1 potassium channel
por: Kuenze, Georg, et al.
Publicado: (2019)

Reduction of Kcnt1 is therapeutic in mouse models of SCN1A and SCN8A epilepsy
por: Hill, Sophie F., et al.
Publicado: (2023)

Characterization of maturation of neuronal voltage-gated sodium channels SCN1A and SCN8A in rat myocardium
por: Krause, Ulrich, et al.
Publicado: (2015)

The L1624Q Variant in SCN1A Causes Familial Epilepsy Through a Mixed Gain and Loss of Channel Function
por: Jones, Laura B., et al.
Publicado: (2021)

Distinct subdomains of the KCNQ1 S6 segment determine channel modulation by different KCNE subunits
por: Vanoye, Carlos G., et al.
Publicado: (2009)

Characterization of a KCNB1 variant associated with autism, intellectual disability, and epilepsy
por: Calhoun, Jeffrey D., et al.
Publicado: (2017)

Differential Functional Changes of Nav1.2 Channel Causing SCN2A-Related Epilepsy and Status Epilepticus During Slow Sleep
por: Miao, Pu, et al.
Publicado: (2021)

Selective spider toxins reveal a role for Na(v)1.1 channel in mechanical pain
por: Osteen, Jeremiah D., et al.
Publicado: (2016)

Modifier genes in SCN1A‐related epilepsy syndromes
por: de Lange, Iris M., et al.
Publicado: (2020)

Embryonic type Na(+) channel β-subunit, SCN3B masks the disease phenotype of Brugada syndrome
por: Okata, Shinichiro, et al.
Publicado: (2016)

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 K(Na)1.1/K(Na)1.2 Potassium Channel
por: Mao, Xiao, et al.
Publicado: (2020)

Ciguatoxins Evoke Potent CGRP Release by Activation of Voltage-Gated Sodium Channel Subtypes Na(V)1.9, Na(V)1.7 and Na(V)1.1
por: Touska, Filip, et al.
Publicado: (2017)

Initiation of migraine-related cortical spreading depolarization by hyperactivity of GABAergic neurons and Na(V)1.1 channels
por: Chever, Oana, et al.
Publicado: (2021)

Gain of Function for the SCN1A/hNa(v)1.1-L1670W Mutation Responsible for Familial Hemiplegic Migraine
por: Dhifallah, Sandra, et al.
Publicado: (2018)

Functional and Structural Characterization of ClC-1 and Na(v)1.4 Channels Resulting from CLCN1 and SCN4A Mutations Identified Alone and Coexisting in Myotonic Patients
por: Brenes, Oscar, et al.
Publicado: (2021)

SCN1A-Related Epilepsy: Novel Mutations and Rare Phenotypes
por: Ma, Rui, et al.
Publicado: (2022)

Can the combination of hyperthermia, seizures and ion channel dysfunction cause fatal post-ictal cerebral edema in patients with SCN1A mutations?
por: Büren, Carina, et al.
Publicado: (2017)

Disease-linked supertrafficking of a potassium channel
por: Huang, Hui, et al.
Publicado: (2021)

Genetic interaction between Scn8a and potassium channel genes Kcna1 and Kcnq2
por: Hill, Sophie F., et al.
Publicado: (2022)

Tramadol as a Voltage-Gated Sodium Channel Blocker of Peripheral Sodium Channels Na(v)1.7 and Na(v)1.5
por: Bok, Chan-Su, et al.
Publicado: (2023)

Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome
por: Brewer, Kathryn R., et al.
Publicado: (2020)

Focal and generalized seizure activity after local hippocampal or cortical ablation of Na(V)1.1 channels in mice
por: Jansen, Nico A., et al.
Publicado: (2020)

Properties of single cardiac Na channels at 35 degrees C
Publicado: (1994)

Cannot write session to /tmp/vufind_sessions/sess_1rkp2b031cfseru8dfk8oih3vd