Epilepsy genes: the link between molecular dysfunction and pathophysiology (Q34099226)

31 July 2017

1 reference

title

Epilepsy genes: the link between molecular dysfunction and pathophysiology (English)

1 reference

31 July 2017

1 reference

Stafstrom CE

1

1 reference

PubMed ID

11107193

31 July 2017

Tempel BL

series ordinal

2

1 reference

31 July 2017

1 January 2000

1 reference

Mental Retardation and Developmental Disabilities Research Reviews

31 July 2017

1 reference

31 July 2017

6

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31 July 2017

4

1 reference

31 July 2017

281-292

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‘Puppet’ Children A Report on Three Cases

31 July 2017

1 reference

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Corticotropin-releasing hormone is a rapid and potent convulsant in the infant rat

21 January 2018

1 reference

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Epilepsies with single gene inheritance.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-2779%282000%296%3A4%3C281%3A%3AAID-MRDD7%3E3.0.CO%3B2-9

Febrile seizures: genetics and relationship to other epilepsy syndromes

21 January 2018

1 reference

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Epilepsies in twins: genetics of the major epilepsy syndromes.

21 January 2018

1 reference

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A potassium channel mutation in neonatal human epilepsy

21 January 2018

1 reference

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The EEG in early diagnosis of the Angelman (happy puppet) syndrome.

21 January 2018

1 reference

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

21 January 2018

1 reference

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Single gene defects in mice: the role of voltage-dependent calcium channels in absence models

21 January 2018

1 reference

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Mutation of the Ca2+ channel beta subunit gene Cchb4 is associated with ataxia and seizures in the lethargic (lh) mouse.

21 January 2018

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Identification of three novel Ca(2+) channel gamma subunit genes reveals molecular diversification by tandem and chromosome duplication

21 January 2018

1 reference

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A candidate model for Angelman syndrome in the mouse.

21 January 2018

1 reference

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Structure and function of voltage-gated ion channels

21 January 2018

1 reference

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

21 January 2018

1 reference

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B7-H1, a third member of the B7 family, co-stimulates T-cell proliferation and interleukin-10 secretion

21 January 2018

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Homozygous deletion in KVLQT1 associated with Jervell and Lange-Nielsen syndrome.

21 January 2018

1 reference

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Mitochondrial DNA mutations and mitochondrial dysfunction in epilepsy

21 January 2018

1 reference

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Molecular diversity of K+ channels

21 January 2018

1 reference

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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

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GABA and epileptogenesis: comparing gabrb3 gene-deficient mice with Angelman syndrome in man.

21 January 2018

1 reference

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

21 January 2018

1 reference

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Absence epilepsy in tottering mutant mice is associated with calcium channel defects

21 January 2018

1 reference

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Genetic basis of the human epilepsies

21 January 2018

1 reference

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Incidence of epilepsy and unprovoked seizures in Rochester, Minnesota: 1935-1984.

21 January 2018

1 reference

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

21 January 2018

1 reference

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Electroclinical signs of benign neonatal familial convulsions.

21 January 2018

1 reference

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Pleiotropic effects of a disrupted K+ channel gene: reduced body weight, impaired motor skill and muscle contraction, but no seizures

21 January 2018

1 reference

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Mice devoid of gamma-aminobutyrate type A receptor beta3 subunit have epilepsy, cleft palate, and hypersensitive behavior

21 January 2018

1 reference

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Calcium channelopathies in the central nervous system

21 January 2018

1 reference

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Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation.

21 January 2018

1 reference

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UBE3A/E6-AP mutations cause Angelman syndrome

21 January 2018

1 reference

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A deficit of functional GABA(A) receptors in neurons of beta 3 subunit knockout mice

21 January 2018

1 reference

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Hereditary febrile seizures: phenotype and evidence for a chromosome 19p locus.

21 January 2018

1 reference

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Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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Compromised mitochondrial function leads to increased cytosolic calcium and to activation of MAP kinases

21 January 2018

1 reference

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Loss of Calbindin-D28K immunoreactivity from dentate granule cells in human temporal lobe epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-2779%282000%296%3A4%3C281%3A%3AAID-MRDD7%3E3.0.CO%3B2-9

Mutation analysis of UBE3A in Angelman syndrome patients

21 January 2018

1 reference

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21 January 2018

1 reference

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De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome.

21 January 2018

1 reference

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Molecular determinants of Na+ channel function in the extracellular domain of the beta1 subunit.

21 January 2018

1 reference

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Angelman syndrome: correlations between epilepsy phenotypes and genotypes

21 January 2018

1 reference

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

21 January 2018

1 reference

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Significant evidence for linkage of febrile seizures to chromosome 5q14-q15.

21 January 2018

1 reference

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Imprinting in Prader-Willi and Angelman syndromes.

21 January 2018

1 reference

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21 January 2018

Targeting epilepsy genes

1 reference

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Autosomal dominant nocturnal frontal lobe epilepsy. A video-polysomnographic and genetic appraisal of 40 patients and delineation of the epileptic syndrome.

21 January 2018

1 reference

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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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Myoclonus epilepsy associated with ragged-red fibers: a G-to-A mutation at nucleotide pair 8363 in mitochondrial tRNA(Lys) in two families.

21 January 2018

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Mitochondrial events in the life and death of animal cells: a brief overview

21 January 2018

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

21 January 2018

1 reference

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Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)

21 January 2018

1 reference

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Progressive ataxia, myoclonic epilepsy and cerebellar apoptosis in cystatin B-deficient mice

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

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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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Evolution and diversity of mammalian sodium channel genes

21 January 2018

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Recent advances in the genetics of epilepsy: insights from human and animal studies

21 January 2018

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Organization of cerebellar cortex secondary to deficit of granule cells in weaver mutant mice

21 January 2018

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Ion channels and the genetic contribution to epilepsy

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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Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

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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Origins of the epileptic state.

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

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

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

1 reference

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Angelman syndrome in three siblings: characteristic epileptic seizures and EEG abnormalities.

21 January 2018

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Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21

21 January 2018

1 reference

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21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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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

1 reference

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Presynaptic nicotinic ACh receptors

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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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

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Autosomal dominant nocturnal frontal lobe epilepsy

21 January 2018

1 reference

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Progressive myoclonus epilepsies: clinical and genetic aspects.

21 January 2018

1 reference

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Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest

21 January 2018

1 reference

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Evolution of epilepsy and EEG findings in Angelman syndrome

21 January 2018

1 reference

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Inhibition of sodium-potassium-ATPase: a potentially ubiquitous mechanism contributing to central nervous system neuropathology

21 January 2018

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Protease inhibitor implicated

21 January 2018

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Strange bedfellows? Protein degradation and neurological dysfunction

21 January 2018

1 reference

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Seizure characteristics in chromosome 20 benign familial neonatal convulsions

21 January 2018

1 reference

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Generalized epilepsy with febrile seizures plus: A common childhood-onset genetic epilepsy syndrome

21 January 2018

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The voltage gated potassium channel KCNQ2 and idiopathic generalized epilepsy

21 January 2018

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Glutamate-induced neuron death requires mitochondrial calcium uptake

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-2779%282000%296%3A4%3C281%3A%3AAID-MRDD7%3E3.0.CO%3B2-9

Seizure and EEG patterns in Angelman's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-2779%282000%296%3A4%3C281%3A%3AAID-MRDD7%3E3.0.CO%3B2-9

Modulatory role of presynaptic nicotinic receptors in synaptic and non-synaptic chemical communication in the central nervous system

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-2779%282000%296%3A4%3C281%3A%3AAID-MRDD7%3E3.0.CO%3B2-9

Mitochondrial DNA mutations in epilepsy and neurological disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-2779%282000%296%3A4%3C281%3A%3AAID-MRDD7%3E3.0.CO%3B2-9

10.1002/1098-2779(2000)6:4<281::AID-MRDD7>3.0.CO;2-9

21 January 2018

Identifiers

DOI

1 reference

31 July 2017

1 reference

PubMed ID

11107193