A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction (Q28291611)

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Lori L. Isom

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Alan Goldin

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author name string

J Spampanato

1

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J A Kearney

2

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G de Haan

3

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D P McEwen

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A Escayg

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I Aradi

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B T MacDonald

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S I Levin

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I Soltesz

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E Montalenti

11

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M H Meisler

14

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language of work or name

English

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publication date

3 November 2004

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published in

Journal of Neuroscience

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volume

24

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issue

44

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page(s)

10022-10034

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Evolution and diversity of mammalian sodium channel genes

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cites work

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12 December 2020

Carbamazepine effects on Na+ currents in human dentate granule cells from epileptogenic tissue

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12 December 2020

A mutation that causes ataxia shifts the voltage-dependence of the Scn8a sodium channel

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12 December 2020

The extracellular domain of the beta1 subunit is both necessary and sufficient for beta1-like modulation of sodium channel gating.

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12 December 2020

Functional roles of the extracellular segments of the sodium channel alpha subunit in voltage-dependent gating and modulation by beta1 subunits.

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12 December 2020

Modulation of sodium currents in rat CA1 neurons by carbamazepine and valproate after kindling epileptogenesis

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12 December 2020

Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome.

1 reference

12 December 2020

Blockade of neuronal sodium channels by the antiepileptic drugs phenytoin, carbamazepine and sodium valproate

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12 December 2020

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2

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12 December 2020

Sodium channel beta subunits mediate homophilic cell adhesion and recruit ankyrin to points of cell-cell contact

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12 December 2020

From ionic currents to molecular mechanisms: the structure and function of voltage-gated sodium channels

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12 December 2020

Distribution of voltage-gated sodium channel alpha-subunit and beta-subunit mRNAs in human hippocampal formation, cortex, and cerebellum

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12 December 2020

Arrhythmogenic mechanism of an LQT-3 mutation of the human heart Na(+) channel alpha-subunit: A computational analysis

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12 December 2020

Nomenclature of voltage-gated sodium channels

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12 December 2020

A gain-of-function mutation in the sodium channel gene Scn2a results in seizures and behavioral abnormalities.

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12 December 2020

Resurgence of sodium channel research

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12 December 2020

Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.

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12 December 2020

A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy

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12 December 2020

The intracellular segment of the sodium channel beta 1 subunit is required for its efficient association with the channel alpha subunit.

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12 December 2020

Novel arrhythmogenic mechanism revealed by a long-QT syndrome mutation in the cardiac Na(+) channel.

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12 December 2020

Are rare variants responsible for susceptibility to complex diseases?

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Increased neuronal excitability and seizures in the Na(+)/H(+) exchanger null mutant mouse

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Regulation of Na+ channel distribution in the nervous system

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Sodium currents in isolated rat CA1 pyramidal and dentate granule neurones in the post-status epilepticus model of epilepsy

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Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures

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12 December 2020

Implication of the C-terminal region of the alpha-subunit of voltage-gated sodium channels in fast inactivation

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12 December 2020

Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2

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12 December 2020

Identification of an axonal determinant in the C-terminus of the sodium channel Na(v)1.2.

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12 December 2020

Identification of epilepsy genes in human and mouse

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12 December 2020

Secondary structure of the human cardiac Na+ channel C terminus: evidence for a role of helical structures in modulation of channel inactivation

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12 December 2020

Role of the C-terminal domain in inactivation of brain and cardiac sodium channels

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12 December 2020

Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation

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12 December 2020

Sodium currents in striatal neurons from dystonic dt(sz) hamsters: altered response to lamotrigine

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12 December 2020

Molecular basis of an inherited epilepsy

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12 December 2020

Voltage-gated sodium channels in epilepsy.

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12 December 2020

Functional and biochemical analysis of a sodium channel beta1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1

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12 December 2020

Generalized epilepsy with febrile seizures plus type 2 mutation W1204R alters voltage-dependent gating of Na(v)1.1 sodium channels

1 reference

12 December 2020

Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures

1 reference

12 December 2020

Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS)

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12 December 2020

Molecular and functional changes in voltage-dependent Na(+) channels following pilocarpine-induced status epilepticus in rat dentate granule cells

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12 December 2020

Two novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus

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12 December 2020

Sodium channel beta4, a new disulfide-linked auxiliary subunit with similarity to beta2

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12 December 2020

Myoclonic-astatic epilepsy

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12 December 2020

Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms.

1 reference

12 December 2020

Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A

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12 December 2020

Increased neuronal firing in computer simulations of sodium channel mutations that cause generalized epilepsy with febrile seizures plus

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12 December 2020

Sodium channel beta1 subunit-mediated modulation of Nav1.2 currents and cell surface density is dependent on interactions with contactin and ankyrin

1 reference

12 December 2020

Mice lacking sodium channel beta1 subunits display defects in neuronal excitability, sodium channel expression, and nodal architecture

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12 December 2020

Chapter 25 Expression of Ion Channels by Injection of mRNA into Xenopus Oocytes

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12 December 2020

Symptomatology in children with focal sharp waves of genetic origin

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12 December 2020

Differential subcellular localization of the RI and RII Na+ channel subtypes in central neurons

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12 December 2020

Regulation of the yeast HO gene

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12 December 2020

Different effects on gating of three myotonia-causing mutations in the inactivation gate of the human muscle sodium channel

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12 December 2020

Interaction of the antiepileptic drug lamotrigine with recombinant rat brain type IIA Na+ channels and with native Na+ channels in rat hippocampal neurones

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12 December 2020

Auxiliary subunits of voltage-gated ion channels

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12 December 2020

Sodium channel mRNAs I, II and III in the CNS: cell-specific expression.

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12 December 2020

Emerging insights into mechanisms of epilepsy: implications for new antiepileptic drug development

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12 December 2020

Cellular and molecular basis of epilepsy.

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12 December 2020

The molecular basis of kindling

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12 December 2020

Partial hippocampal kindling increases paired-pulse facilitation and burst frequency in hippocampal CA1 neurons.

1 reference

12 December 2020

Distribution of I, II and III subtypes of voltage-sensitive Na+ channel mRNA in the rat brain.

1 reference

12 December 2020

Functional consequences of a Na+ channel mutation causing hyperkalemic periodic paralysis

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12 December 2020

Neuroglian-mediated cell adhesion induces assembly of the membrane skeleton at cell contact sites

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12 December 2020

Inactivation defects caused by myotonia-associated mutations in the sodium channel III-IV linker

1 reference

12 December 2020

Modulation of Na+ channel inactivation by the beta 1 subunit: a deletion analysis.

1 reference

12 December 2020

Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes

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12 December 2020

Lamotrigine reduces voltage-gated sodium currents in rat central neurons in culture.

1 reference

12 December 2020

Carbamazepine inhibition of neuronal Na+ currents: quantitative distinction from phenytoin and possible therapeutic implications.

1 reference

12 December 2020

The NEURON simulation environment

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12 December 2020

Characterization of lamotrigine inhibition of Na+ channels in rat hippocampal neurones

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12 December 2020

Sodium channel activation gating is affected by substitutions of voltage sensor positive charges in all four domains

1 reference

12 December 2020

Functional analysis of the rat I sodium channel in xenopus oocytes.

1 reference

12 December 2020

Molecular determinants of Na+ channel function in the extracellular domain of the beta1 subunit.

1 reference

12 December 2020

Genetic basis and molecular mechanism for idiopathic ventricular fibrillation

1 reference

12 December 2020

Human sodium channel gating defects caused by missense mutations in S6 segments associated with myotonia: S804F and V1293I.

1 reference

12 December 2020

Novel LQT-3 mutation affects Na+ channel activity through interactions between alpha- and beta1-subunits

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12 December 2020

Sodium currents in isolated rat CA1 neurons after kindling epileptogenesis.

1 reference

12 December 2020

A common anticonvulsant binding site for phenytoin, carbamazepine, and lamotrigine in neuronal Na+ channels

1 reference

12 December 2020

Generalized epilepsy with febrile seizures plus: A common childhood-onset genetic epilepsy syndrome

1 reference

12 December 2020

10.1523/JNEUROSCI.2034-04.2004

Identifiers

DOI

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