Ion channels and epilepsy (Q28189601)

American Journal of Medical Genetics Part A

Europe PubMed Central

title

Ion channels and epilepsy (English)

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author name string

H Lerche

series ordinal

1

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K Jurkat-Rott

series ordinal

2

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F Lehmann-Horn

series ordinal

3

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language of work or name

English

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publication date

2001

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published in

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volume

106

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issue

2

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page(s)

146-59

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cites work

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

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A sodium channel mutation causing epilepsy in man exhibits subtle defects in fast inactivation and activation in vitro

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Enhanced inactivation and acceleration of activation of the sodium channel associated with epilepsy in man

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A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33.

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

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

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

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Familial paroxysmal kinesigenic ataxia and continuous myokymia.

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Spectrum of sodium channel disturbances in the nondystrophic myotonias and periodic paralyses

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

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

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Molecular cloning and chromosomal localization of the human alpha 7-nicotinic receptor subunit gene (CHRNA7).

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Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias

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Cloning of a putative human voltage-gated chloride channel (CIC-2) cDNA widely expressed in human tissues

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

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

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Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q.

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

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

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

21 January 2018

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

21 January 2018

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Two mutations linked to nocturnal frontal lobe epilepsy cause use-dependent potentiation of the nicotinic ACh response

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Childhood absence epilepsy with tonic-clonic seizures and electroencephalogram 3-4-Hz spike and multispike-slow wave complexes: linkage to chromosome 8q24.

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Nomenclature of voltage-gated sodium channels

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The voltage-gated sodium channel beta2-subunit gene and idiopathic generalized epilepsy.

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

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

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Neuronal KCNQ potassium channels: physiology and role in disease.

21 January 2018

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

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KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness

21 January 2018

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Point mutant mice with hypersensitive alpha 4 nicotinic receptors show dopaminergic deficits and increased anxiety.

21 January 2018

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Potassium channel openers as potential therapeutic weapons in ion channel disease.

21 January 2018

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

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Paramyotonia congenita: the R1448P Na+ channel mutation in adult human skeletal muscle

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

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Molecular cloning and functional expression of KCNQ5, a potassium channel subunit that may contribute to neuronal M-current diversity

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A new locus for generalized epilepsy with febrile seizures plus maps to chromosome 2.

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An update on GABAA receptors

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Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q33.

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Centrotemporal spikes in families with rolandic epilepsy: linkage to chromosome 15q14.

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

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A locus for febrile seizures (FEB3) maps to chromosome 2q23-24

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Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2

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

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Mutated nicotinic receptors responsible for autosomal dominant nocturnal frontal lobe epilepsy are more sensitive to carbamazepine.

21 January 2018

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K+ channel openers suppress myotonic activity of human skeletal muscle in vitro

21 January 2018

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The novel anticonvulsant retigabine activates M-currents in Chinese hamster ovary-cells tranfected with human KCNQ2/3 subunits

21 January 2018

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Refined mapping of the epilepsy susceptibility locus EJM1 on chromosome 6.

21 January 2018

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The gene encoding the alpha1A-voltage-dependent calcium channel (CACN1A4) is not a candidate for causing common subtypes of idiopathic generalized epilepsy

21 January 2018

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Length variation of a polyglutamine array in the gene encoding a small-conductance, calcium-activated potassium channel (hKCa3) and susceptibility to idiopathic generalized epilepsy.

21 January 2018

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Genome search for susceptibility loci of common idiopathic generalised epilepsies

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

21 January 2018

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Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder

21 January 2018

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Autosomal dominant nocturnal frontal lobe epilepsy

21 January 2018

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A recessive C-terminal Jervell and Lange-Nielsen mutation of the KCNQ1 channel impairs subunit assembly

21 January 2018

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

21 January 2018

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KCNQ5, a novel potassium channel broadly expressed in brain, mediates M-type currents

21 January 2018

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Localization of two potassium channel beta subunit genes, KCNA1B and KCNA2B.

21 January 2018

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Surface expression and single channel properties of KCNQ2/KCNQ3, M-type K+ channels involved in epilepsy

21 January 2018

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Clinical and genetic analysis of a large pedigree with juvenile myoclonic epilepsy.

21 January 2018

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Structure and subunit composition of GABA(A) receptors.

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

Childhood absence epilepsy in 8q24: refinement of candidate region and construction of physical map.

21 January 2018

1 reference

The KCNQ2 potassium channel: splice variants, functional and developmental expression. Brain localization and comparison with KCNQ3

21 January 2018

1 reference

21 January 2018

1 reference

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

21 January 2018

1 reference

Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias

21 January 2018

1 reference

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

21 January 2018

1 reference

An amino acid exchange in the second transmembrane segment of a neuronal nicotinic receptor causes partial epilepsy by altering its desensitization kinetics

21 January 2018

1 reference

Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

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