(Q34649239)

3 August 2017

1 reference

title

The neuronal channelopathies (English)

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3 August 2017

Dimitri M Kullmann

1

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language of work or name

English

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publication date

1 June 2002

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3 August 2017

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3 August 2017

125

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3 August 2017

1177-1195

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3 August 2017

Pt 6

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Episodic ataxia results from voltage-dependent potassium channels with altered functions

3 August 2017

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Familial periodic cerebellar ataxia: a problem of cerebellar intracellular pH homeostasis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Connexin mutations in X-linked Charcot-Marie-Tooth disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Properties of neuronal nicotinic acetylcholine receptor mutants from humans suffering from autosomal dominant nocturnal frontal lobe epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

A potassium channel mutation in neonatal human epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Episodic ataxia/myokymia mutations functionally expressed in the Shaker potassium channel.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Splicing of alpha 1A subunit gene generates phenotypic variants of P- and Q-type calcium channels.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Expression in mammalian cells and electrophysiological characterization of two mutant Kv1.1 channels causing episodic ataxia type 1 (EA-1)

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

A frameshift mutation in the mouse alpha 1 glycine receptor gene (Glra1) results in progressive neurological symptoms and juvenile death

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Ion-channel defects and aberrant excitability in myotonia and periodic paralysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Structure and regulation of voltage-gated Ca2+ channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Disorders of membrane channels or channelopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Unusual spectral energy distribution of a galaxy previously reported to be at redshift 6.68.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Subunit composition of Kv1 channels in human CNS

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Episodic ataxia and myokymia syndrome: a new mutation of potassium channel gene Kv1.1

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Colocalization and coassembly of two human brain M-type potassium channel subunits that are mutated in epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Nicotinic receptor function: new perspectives from knockout mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Episodic ataxia type-1 mutations in the hKv1.1 cytoplasmic pore region alter the gating properties of the channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Neurological channelopathies: diagnosis and therapy in the new millennium

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Missense CACNA1A mutation causing episodic ataxia type 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Postsynaptic clustering of major GABAA receptor subtypes requires the gamma 2 subunit and gephyrin.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Ataxic mouse mutants and molecular mechanisms of absence epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Genetic basis of the human epilepsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Hereditary paroxysmal ataxia: Response to acetazolamide

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Benzodiazepine-insensitive mice generated by targeted disruption of the gamma 2 subunit gene of gamma-aminobutyric acid type A receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Familial paroxysmal ataxia: report of a family

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

A novel mutation ofKCNQ3 (c.925T?C) in a Japanese family with benign familial neonatal convulsions

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Cytoplasmic and nuclear polyglutamine aggregates in SCA6 Purkinje cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

A novel nonsense mutation in CACNA1A causes episodic ataxia and hemiplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Neuronal KCNQ potassium channels: physiology and role in disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Ablation of P/Q-type Ca(2+) channel currents, altered synaptic transmission, and progressive ataxia in mice lacking the alpha(1A)-subunit

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

The molecular biology of the autosomal-dominant cerebellar ataxias

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Identification of a novel missense mutation L329I in the episodic ataxia type 1 gene KCNA1--a challenging problem

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Delayed cerebral edema and fatal coma after minor head trauma: role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Familial hemiplegic migraine mutations change alpha1A Ca2+ channel kinetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Three new familial hemiplegic migraine mutants affect P/Q-type Ca(2+) channel kinetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Ultrastructural localization of Shaker-related potassium channel subunits and synapse-associated protein 90 to septate-like junctions in rat cerebellar Pinceaux.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

A KCNQ2 splice site mutation causing benign neonatal convulsions in a Scottish family

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Susceptibility genes in human epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Benign familial neonatal convulsions linked to genetic markers on chromosome 20.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

A reduced K+ current due to a novel mutation in KCNQ2 causes neonatal convulsions

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

The mouse stargazer gene encodes a neuronal Ca2+-channel gamma subunit.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Properties of human glycine receptors containing the hyperekplexia mutation alpha1(K276E), expressed in Xenopus oocytes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Hereditary myokymia and paroxysmal ataxia linked to chromosome 12 is responsive to acetazolamide

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Identification of intracellular and extracellular domains mediating signal transduction in the inhibitory glycine receptor chloride channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Benign familial neonatal convulsions (BFNC) resulting from mutation of the KCNQ2 voltage sensor

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the alpha 1 subunit of the inhibitory glycine receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Heteromultimeric channels formed by rat brain potassium-channel proteins.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

A missense mutation in the gene encoding the alpha 1 subunit of the inhibitory glycine receptor in the spasmodic mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Phosphorus and proton magnetic resonance spectroscopy in episodic ataxia type 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Three novel KCNA1 mutations in episodic ataxia type I families

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Mutational analysis of familial and sporadic hyperekplexia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Deletion of the K(V)1.1 potassium channel causes epilepsy in mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Functional characterization of a novel mutation in KCNA1 in episodic ataxia type 1 associated with epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Disruption of ClC-3, a chloride channel expressed on synaptic vesicles, leads to a loss of the hippocampus

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Heteromultimeric K+ channels in terminal and juxtaparanodal regions of neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

KCNQ2 and KCNQ3 potassium channel subunits: molecular correlates of the M-channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Disruption of the epilepsy KCNQ2 gene results in neural hyperexcitability

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Functional expression of two KvLQT1-related potassium channels responsible for an inherited idiopathic epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Progressive ataxia due to a missense mutation in a calcium-channel gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Characterization of three episodic ataxia mutations in the human Kv1.1 potassium channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

Muscarinic suppression of a novel voltage-sensitive K+ current in a vertebrate neurone

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWF130

21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWF130

1 reference

3 August 2017

1 reference

PubMed ID

12023309