| review article | Q7318358 |
| scholarly article | Q13442814 |
| P2093 | author name string | J Jay Gargus | |
| P2860 | cites work | KCNQ2 and KCNQ3 potassium channel subunits: molecular correlates of the M-channel | Q22008501 |
| KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness | Q22008780 | ||
| MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia | Q22009462 | ||
| The Sequence of the Human Genome | Q22065842 | ||
| Mutation of the Ca2+ channel beta subunit gene Cchb4 is associated with ataxia and seizures in the lethargic (lh) mouse | Q48053992 | ||
| Deletion of the K(V)1.1 potassium channel causes epilepsy in mice | Q48472743 | ||
| Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. | Q48934070 | ||
| Prolongation of the QT interval and the sudden infant death syndrome. | Q52186927 | ||
| A novel sodium channel mutation in a family with hypokalemic periodic paralysis | Q55670198 | ||
| Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia | Q55670933 | ||
| Sudden Cardiac Death, Genes, and Arrhythmogenesis | Q57073281 | ||
| Andersen's syndrome: A distinct periodic paralysis | Q57085845 | ||
| Linkage of malignant hyperthermia and hyperkalemic periodic paralysis to the adult skeletal muscle sodium channel (SCN4A) gene in a large pedigree | Q57386780 | ||
| Electrocardiography first for reducing cot death | Q58010954 | ||
| Molecular diagnosis in a child with sudden infant death syndrome | Q58010960 | ||
| Epilepsy genes: excitement traced to potassium channels | Q61178650 | ||
| A Dominant Negative Isoform of the Long QT Syndrome 1 Gene Product | Q61773877 | ||
| Linkage of a cardiac arrhythmia, the long QT syndrome, and the Harvey ras-1 gene | Q68298471 | ||
| Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK | Q71614570 | ||
| Cost-effectiveness and implications of newborn screening for prolongation of QT interval for the prevention of sudden infant death syndrome | Q73641240 | ||
| Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy | Q74361012 | ||
| Low penetrance in the long-QT syndrome: clinical impact | Q77932863 | ||
| Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2 | Q22253421 | ||
| Molecular cloning and functional expression of KCNQ5, a potassium channel subunit that may contribute to neuronal M-current diversity | Q22254006 | ||
| The Structure of the Potassium Channel: Molecular Basis of K+ Conduction and Selectivity | Q22337058 | ||
| CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy | Q24290583 | ||
| A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy | Q24308706 | ||
| Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias | Q24311437 | ||
| Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1 | Q24312199 | ||
| Identification of a mutation in the gene causing hyperkalemic periodic paralysis | Q24314688 | ||
| A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome | Q24316980 | ||
| SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome | Q24317024 | ||
| A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns | Q24319094 | ||
| Mutations in the hminK gene cause long QT syndrome and suppress IKs function | Q24323571 | ||
| Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel | Q24337722 | ||
| Heteromerization of Kir2.x potassium channels contributes to the phenotype of Andersen's syndrome | Q24530714 | ||
| De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy | Q24533495 | ||
| Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus. | Q24536353 | ||
| Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia | Q24540213 | ||
| Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome) | Q24553132 | ||
| A family of potassium channel genes related to eag in Drosophila and mammals | Q24563554 | ||
| 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 | Q24626279 | ||
| Genetic heterogeneity in benign familial neonatal convulsions: identification of a new locus on chromosome 8q | Q24670504 | ||
| Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia | Q24671882 | ||
| 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 | Q24676753 | ||
| Progressive ataxia due to a missense mutation in a calcium-channel gene | Q24677069 | ||
| Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1 | Q24678584 | ||
| Energetic optimization of ion conduction rate by the K+ selectivity filter | Q27635927 | ||
| A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family | Q28115034 | ||
| Isolation of a novel potassium channel gene hSKCa3 containing a polymorphic CAG repeat: a candidate for schizophrenia and bipolar disorder? | Q28118884 | ||
| Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA | Q28119124 | ||
| A common polymorphism associated with antibiotic-induced cardiac arrhythmia | Q28138550 | ||
| Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability | Q28140752 | ||
| Retigabine, a novel anti-convulsant, enhances activation of KCNQ2/Q3 potassium channels | Q28144303 | ||
| First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene | Q28186139 | ||
| Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures | Q28186159 | ||
| Ion channels and epilepsy | Q28189601 | ||
| A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy | Q28198095 | ||
| Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man | Q28201425 | ||
| MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis | Q28201439 | ||
| The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel | Q28204946 | ||
| Molecular basis of an inherited epilepsy | Q28207595 | ||
| Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita | Q28210343 | ||
| Episodic ataxia type 2. Three novel truncating mutations and one novel missense mutation in the CACNA1A gene | Q28214045 | ||
| Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy | Q28216597 | ||
| Dihydropyridine receptor mutations cause hypokalemic periodic paralysis | Q28243593 | ||
| Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p | Q28249418 | ||
| Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of Long-QT syndrome | Q28260101 | ||
| Genetic basis and molecular mechanism for idiopathic ventricular fibrillation | Q28265902 | ||
| Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome | Q28288744 | ||
| Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4 | Q28295213 | ||
| K(V)LQT1 and lsK (minK) proteins associate to form the I(Ks) cardiac potassium current | Q28295470 | ||
| Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel | Q28300848 | ||
| Sequence of a probable potassium channel component encoded at Shaker locus of Drosophila | Q28305707 | ||
| Absence epilepsy in tottering mutant mice is associated with calcium channel defects | Q28587452 | ||
| Reduced antinociception in mice lacking neuronal nicotinic receptor subunits | Q28587975 | ||
| Rocker is a new variant of the voltage-dependent calcium channel gene Cacna1a | Q28588820 | ||
| Excitatory but not inhibitory synaptic transmission is reduced in lethargic (Cacnb4(lh)) and tottering (Cacna1atg) mouse thalami | Q28590366 | ||
| Disruption of the epilepsy KCNQ2 gene results in neural hyperexcitability | Q28590945 | ||
| Ducky mouse phenotype of epilepsy and ataxia is associated with mutations in the Cacna2d2 gene and decreased calcium channel current in cerebellar Purkinje cells | Q28591132 | ||
| Ablation of P/Q-type Ca(2+) channel currents, altered synaptic transmission, and progressive ataxia in mice lacking the alpha(1A)-subunit | Q28592875 | ||
| Molecular mechanisms of human hypertension | Q32138445 | ||
| Molecular biology and the prolonged QT syndromes | Q33146297 | ||
| Molecular mechanism for an inherited cardiac arrhythmia | Q33173678 | ||
| A piece in the puzzle: an ion channel candidate gene for schizophrenia. | Q33368947 | ||
| Developmental seizure susceptibility of kv1.1 potassium channel knockout mice | Q33781005 | ||
| Nuclear localization and dominant-negative suppression by a mutant SKCa3 N-terminal channel fragment identified in a patient with schizophrenia. | Q33950288 | ||
| Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel | Q34091858 | ||
| Potassium channels: molecular defects, diseases, and therapeutic opportunities. | Q34106415 | ||
| Molecular structure and physiological function of chloride channels | Q34120773 | ||
| Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy | Q34122789 | ||
| Neuronal KCNQ potassium channels: physiology and role in disease. | Q34185467 | ||
| Novel truncated isoform of SK3 potassium channel is a potent dominant-negative regulator of SK currents: implications in schizophrenia. | Q34206174 | ||
| Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy | Q34308497 | ||
| Identification of epilepsy genes in human and mouse | Q34432267 | ||
| The diversity of GABAA receptors. Pharmacological and electrophysiological properties of GABAA channel subtypes | Q34481002 | ||
| Cardiac channelopathies | Q34503400 | ||
| A molecular link between the sudden infant death syndrome and the long-QT syndrome | Q34509859 | ||
| Restoration of excitation-contraction coupling and slow calcium current in dysgenic muscle by dihydropyridine receptor complementary DNA. | Q34560693 | ||
| Calcium channel mutations and migraine | Q34667991 | ||
| Structural homology of Torpedo californica acetylcholine receptor subunits | Q34707687 | ||
| Long QT syndrome, Brugada syndrome, and conduction system disease are linked to a single sodium channel mutation | Q34785746 | ||
| Skeletal muscle channelopathies | Q34990898 | ||
| Spectrum of HERG K+-channel dysfunction in an inherited cardiac arrhythmia | Q37713628 | ||
| Drug-induced long-QT syndrome associated with a subclinical SCN5A mutation | Q40707075 | ||
| Pathogenic role of glutamate in hyperthermia-induced seizures | Q40718030 | ||
| Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes | Q40733443 | ||
| From ion currents to genomic analysis: recent advances in GABAA receptor research. | Q40956408 | ||
| The mouse stargazer gene encodes a neuronal Ca2+-channel gamma subunit. | Q41017868 | ||
| hKCa3/KCNN3 potassium channel gene: association of longer CAG repeats with schizophrenia in Israeli Ashkenazi Jews, expression in human tissues and localization to chromosome 1q21. | Q42474291 | ||
| Benign familial neonatal convulsions linked to genetic markers on chromosome 20. | Q44109661 | ||
| Hyperalgesia in mice lacking the Kv1.1 potassium channel gene | Q45113313 | ||
| Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias | Q48045058 | ||
| Molecular basis of the long-QT syndrome associated with deafness | Q48049583 | ||
| P433 | issue | 4 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | polygenic disease | Q3281391 |
| P304 | page(s) | 785-803 | |
| P577 | publication date | 2003-03-07 | |
| P1433 | published in | American Journal of Human Genetics | Q4744249 |
| P1476 | title | Unraveling monogenic channelopathies and their implications for complex polygenic disease | |
| P478 | volume | 72 |
| Q59200879 | A KCNQ1 V205M missense mutation causes a high rate of long QT syndrome in a First Nations community of northern British Columbia: a community-based approach to understanding the impact |
| Q36845174 | A polygenic heterogeneity model for common epilepsies with complex genetics. |
| Q36917377 | A review of potassium channels in bipolar disorder |
| Q36774738 | Channelopathies in idiopathic epilepsy |
| Q26864726 | Channelopathy pathogenesis in autism spectrum disorders |
| Q37186360 | Channels active in the excitability of nerves and skeletal muscles across the neuromuscular junction: basic function and pathophysiology |
| Q37149241 | Chipping away at the common epilepsies with complex genetics: the 15q13.3 microdeletion shows the way. |
| Q28295071 | Delta subunit susceptibility variants E177A and R220H associated with complex epilepsy alter channel gating and surface expression of alpha4beta2delta GABAA receptors |
| Q38739142 | Determination of the Relative Cell Surface and Total Expression of Recombinant Ion Channels Using Flow Cytometry |
| Q39735946 | Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy |
| Q44854317 | Febrile convulsions and genetic susceptibility: role of the neuronal nicotinic acetylcholine receptor alpha 4 subunit |
| Q37220081 | Forty years from markers to genes |
| Q28250190 | Functional characterization and neuronal modeling of the effects of childhood absence epilepsy variants of CACNA1H, a T-type calcium channel |
| Q81294539 | Genetic epidemiology of eating disorders and co-occurring conditions: the role of endophenotypes |
| Q33886242 | KCNQ1 p.L353L affects splicing and modifies the phenotype in a founder population with long QT syndrome type 1. |
| Q48026950 | LQTS in Northern BC: homozygosity for KCNQ1 V205M presents with a more severe cardiac phenotype but with minimal impact on auditory function |
| Q55690781 | Long QT syndrome. |
| Q44359012 | Mechanisms by which a CACNA1H mutation in epilepsy patients increases seizure susceptibility |
| Q36463071 | Mechanisms of disease: Genetic mechanisms of atrial fibrillation |
| Q36295287 | Novel mutation confirms seizure locus SCN1A is also familial hemiplegic migraine locus FHM3 |
| Q33245065 | PP2A-Bgamma subunit and KCNQ2 K+ channels in bipolar disorder |
| Q30427731 | Role of voltage-gated calcium channels in epilepsy. |
| Q38686593 | The Role of Calcium Channels in Epilepsy |
| Q35198044 | The genetics of human epilepsy |
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