Genes and mutations in idiopathic epilepsy (Q34386799)

1 August 2017

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title

Genes and mutations in idiopathic epilepsy (English)

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1 August 2017

Steinlein OK

1

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1 August 2017

1 January 2001

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American Journal of Medical Genetics Part A

1 August 2017

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1 August 2017

106

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1 August 2017

2

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1 August 2017

139-145

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Epilepsies in twins: genetics of the major epilepsy syndromes.

1 August 2017

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A potassium channel mutation in neonatal human epilepsy

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Functional architecture of the nicotinic acetylcholine receptor: a prototype of ligand-gated ion channels

21 January 2018

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

21 January 2018

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

21 January 2018

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Neuronal nicotinic receptors: molecular organization and regulations

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Autosomal dominant nocturnal frontal lobe epilepsy: electroclinical picture.

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Identification of a mutation in the gene causing hyperkalemic periodic paralysis

21 January 2018

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

21 January 2018

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

21 January 2018

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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

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

21 January 2018

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21 January 2018

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

21 January 2018

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

21 January 2018

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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

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

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/AJMG.1571

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1 August 2017

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PubMed ID

11579434