(Q34558526)

3 August 2017

1 reference

title

Channelopathies can cause epilepsy in man. (English)

1 reference

3 August 2017

Ortrud K Steinlein

1

1 reference

3 August 2017

1 January 2002

1 reference

3 August 2017

European Journal of Pain

1 reference

3 August 2017

6 Suppl A

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3 August 2017

27-34

1 reference

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

3 August 2017

1 reference

https://api.crossref.org/works/10.1053%2FEUJP.2001.0319

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/10.1053%2FEUJP.2001.0319

Epilepsies in twins: genetics of the major epilepsy syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1053%2FEUJP.2001.0319

Structural and mutational analysis of KCNQ2, the major gene locus for benign familial neonatal convulsions

21 January 2018

1 reference

https://api.crossref.org/works/10.1053%2FEUJP.2001.0319

A potassium channel mutation in neonatal human epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1053%2FEUJP.2001.0319

Genetic counseling in the epilepsies. I. Genetic risks

21 January 2018

1 reference

https://api.crossref.org/works/10.1053%2FEUJP.2001.0319

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/10.1053%2FEUJP.2001.0319

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/10.1053%2FEUJP.2001.0319

Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1053%2FEUJP.2001.0319

A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1053%2FEUJP.2001.0319

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1053%2FEUJP.2001.0319

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1053%2FEUJP.2001.0319

Neuronal nicotinic receptors: molecular organization and regulations

21 January 2018

1 reference

https://api.crossref.org/works/10.1053%2FEUJP.2001.0319

A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1053%2FEUJP.2001.0319

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1053%2FEUJP.2001.0319

Primary structure and functional expression of the beta 1 subunit of the rat brain sodium channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1053%2FEUJP.2001.0319

Structure and function of the beta 2 subunit of brain sodium channels, a transmembrane glycoprotein with a CAM motif

21 January 2018

1 reference

https://api.crossref.org/works/10.1053%2FEUJP.2001.0319

Inactivation of cloned Na channels expressed in Xenopus oocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1053%2FEUJP.2001.0319

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1053%2FEUJP.2001.0319

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1053%2FEUJP.2001.0319

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1053%2FEUJP.2001.0319

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1053%2FEUJP.2001.0319

Genomic organization and chromosomal assignment of the human voltage-gated Na+ channel beta 1 subunit gene (SCN1B).

21 January 2018

1 reference

https://api.crossref.org/works/10.1053%2FEUJP.2001.0319

Confirmation of linkage of benign familial neonatal convulsions to D20S19 and D20S20.

21 January 2018

1 reference

https://api.crossref.org/works/10.1053%2FEUJP.2001.0319

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1053%2FEUJP.2001.0319

Autosomal dominant nocturnal frontal lobe epilepsy: electroclinical picture.

21 January 2018

1 reference

https://api.crossref.org/works/10.1053%2FEUJP.2001.0319

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/10.1053%2FEUJP.2001.0319

Localization of a gene for partial epilepsy to chromosome 10q

21 January 2018

1 reference

https://api.crossref.org/works/10.1053%2FEUJP.2001.0319

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1053%2FEUJP.2001.0319

Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24

21 January 2018

1 reference

https://api.crossref.org/works/10.1053%2FEUJP.2001.0319

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/10.1053%2FEUJP.2001.0319

Identification of a mutation in the gene causing hyperkalemic periodic paralysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1053%2FEUJP.2001.0319

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1053%2FEUJP.2001.0319

Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1053%2FEUJP.2001.0319

Autosomal dominant nocturnal frontal lobe epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1053%2FEUJP.2001.0319

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1053%2FEUJP.2001.0319

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1053%2FEUJP.2001.0319

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/10.1053%2FEUJP.2001.0319

Refinement of the localization of the gene for neuronal nicotinic acetylcholine receptor alpha 4 subunit (CHRNA4) to human chromosome 20q13.2-q13.3

21 January 2018

1 reference

https://api.crossref.org/works/10.1053%2FEUJP.2001.0319

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/10.1053%2FEUJP.2001.0319

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/10.1053%2FEUJP.2001.0319

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/10.1053%2FEUJP.2001.0319

21 January 2018

1 reference

https://api.crossref.org/works/10.1053%2FEUJP.2001.0319

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1053%2FEUJP.2001.0319

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1053%2FEUJP.2001.0319

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1053%2FEUJP.2001.0319

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

https://api.crossref.org/works/10.1053%2FEUJP.2001.0319

Presynaptic nicotinic ACh receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1053%2FEUJP.2001.0319

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1053%2FEUJP.2001.0319

Autosomal dominant rolandic epilepsy and speech dyspraxia: A new syndrome with anticipation

21 January 2018

1 reference

https://api.crossref.org/works/10.1053%2FEUJP.2001.0319

21 January 2018

Identifiers

DOI

10.1053/EUJP.2001.0319

1 reference

3 August 2017

1 reference

PubMed ID

11888238