Neurological disorders caused by inherited ion-channel mutations (Q35172474)

6 August 2017

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title

Neurological disorders caused by inherited ion-channel mutations (English)

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6 August 2017

Dimitri M Kullmann

1

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Michael Hanna

series ordinal

2

object named as

Michael G Hanna

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6 August 2017

1 July 2002

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6 August 2017

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6 August 2017

1

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6 August 2017

3

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6 August 2017

157-166

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Non-dystrophic myotonias and periodic paralyses

6 August 2017

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

Episodic ataxias as channelopathies

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

Transcriptional channelopathies: an emerging class of disorders

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https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

The skeletal muscle sodium and chloride channel diseases

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https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

The skeletal muscle channelopathies: basic science, clinical genetics and treatment

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https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

The neuronal channelopathies

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https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

Voltage-gated ion channels and hereditary disease

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https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

Identification of a mutation in the gene causing hyperkalemic periodic paralysis

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https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

The exercise test in periodic paralysis

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https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

Salbutamol treatment in a patient with hyperkalaemic periodic paralysis due to a mutation in the skeletal muscle sodium channel gene (SCN4A).

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

Randomized trials of dichlorphenamide in the periodic paralyses. Working Group on Periodic Paralysis

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

A novel sodium channel mutation in a family with hypokalemic periodic paralysis

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

A sodium channel defect in hyperkalemic periodic paralysis: potassium-induced failure of inactivation

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

Defective slow inactivation of sodium channels contributes to familial periodic paralysis

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

A calcium channel mutation causing hypokalemic periodic paralysis

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

Dihydropyridine receptor mutations cause hypokalemic periodic paralysis

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

Structure and regulation of voltage-gated Ca2+ channels

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https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

Hypokalemic periodic paralysis: In vitro investigation of muscle fiber membrane parameters

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome

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https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

X-ray structure of a ClC chloride channel at 3.0 A reveals the molecular basis of anion selectivity

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https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

Two physically distinct pores in the dimeric ClC-0 chloride channel.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

The skeletal muscle chloride channel in dominant and recessive human myotonia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

On the repetitive discharge in myotonic muscle fibres

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https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

Action potentials reconstructed in normal and myotonic muscle fibres

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https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

Malignant hyperthermia

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https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

Identification of a Mutation in Porcine Ryanodine Receptor Associated with Malignant Hyperthermia

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https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

Testing for malignant hyperthermia

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https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

A mutation in the human ryanodine receptor gene associated with central core disease

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https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia

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https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

Congenital myasthenic syndromes: recent advances

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https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

Congenital myasthenic syndromes. Studies of the AChR and other candidate genes.

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https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

Arthrogryposis multiplex congenita due to congenital myasthenic syndrome

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https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

Newly recognized congenital myasthenic syndrome associated with high conductance and fast closure of the acetylcholine receptor channel.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity

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https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

A beta-subunit mutation in the acetylcholine receptor channel gate causes severe slow-channel syndrome

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https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

Congenital endplate acetylcholinesterase deficiency

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https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

Subunit composition of Kv1 channels in human CNS

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https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

Temperature-sensitive neuromuscular transmission in Kv1.1 null mice: role of potassium channels under the myelin sheath in young nerves

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https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

Episodic ataxia mutations in Kv1.1 alter potassium channel function by dominant negative effects or haploinsufficiency

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https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

Variable K(+) channel subunit dysfunction in inherited mutations of KCNA1

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission

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https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

Missense CACNA1A mutation causing episodic ataxia type 2

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https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

Familial hemiplegic migraine mutations change alpha1A Ca2+ channel kinetics

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https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

Increased expression of alpha 1A Ca2+ channel currents arising from expanded trinucleotide repeats in spinocerebellar ataxia type 6.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

The polyglutamine expansion in spinocerebellar ataxia type 6 causes a beta subunit-specific enhanced activation of P/Q-type calcium channels in Xenopus oocytes.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

Association between the alpha(1a) calcium channel gene CACNA1A and idiopathic generalized epilepsy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

1 reference

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

Mutation causing autosomal dominant nocturnal frontal lobe epilepsy alters Ca2+ permeability, conductance, and gating of human alpha4beta2 nicotinic acetylcholine receptors

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

Presynaptic ionotropic receptors and the control of transmitter release.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

A potassium channel mutation in neonatal human epilepsy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

Mutational analysis of familial and sporadic hyperekplexia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

1 reference

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

Decreased agonist affinity and chloride conductance of mutant glycine receptors associated with human hereditary hyperekplexia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

Identification of epilepsy genes in human and mouse

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

Slow-channel transgenic mice: a model of postsynaptic organellar degeneration at the neuromuscular junction.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2802%2900071-6

7 January 2021

10.1016/S1474-4422(02)00071-6

Identifiers

DOI

1 reference

6 August 2017

1 reference

PubMed ID

12849484