| P50 | author | Karin Jurkat-Rott | Q40401064 |
| P2093 | author name string | Frank Lehmann-Horn | |
| | James Groome | |
| P2860 | cites work | Gating of the L-type Ca channel in human skeletal myotubes: an activation defect caused by the hypokalemic periodic paralysis mutation R528H | Q22008539 |
| | Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2 | Q22253421 |
| | Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome | Q24291252 |
| | Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis | Q24295040 |
| | Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker | Q24529156 |
| | Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel | Q24555140 |
| | Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy | Q24563329 |
| | Single-channel properties of human NaV1.1 and mechanism of channel dysfunction in SCN1A-associated epilepsy | Q24684695 |
| | Functional consequences of mutations in the human alpha1A calcium channel subunit linked to familial hemiplegic migraine | Q28137616 |
| | Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM | Q28138735 |
| | Three new familial hemiplegic migraine mutants affect P/Q-type Ca(2+) channel kinetics | Q28139662 |
| | A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia | Q28139793 |
| | Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2 | Q28145423 |
| | Effects of mutations causing hypokalaemic periodic paralysis on the skeletal muscle L-type Ca2+ channel expressed in Xenopus laevis oocytes | Q48907500 |
| | Long QT syndrome-associated mutations in the S4-S5 linker of KvLQT1 potassium channels modify gating and interaction with minK subunits | Q48912988 |
| | Differential effects of homologous S4 mutations in human skeletal muscle sodium channels on deactivation gating from open and inactivated states | Q48921021 |
| | A de novo missense mutation of human cardiac Na+ channel exhibiting novel molecular mechanisms of long QT syndrome | Q48944651 |
| | Multiple mechanisms of Na+ channel--linked long-QT syndrome | Q49013113 |
| | Insulin-induced membrane changes in K(+)-depleted rat skeletal muscle. | Q51661740 |
| | Acute striatal necrosis in hemiplegic migraine with de novo CACNA1A mutation. | Q51847506 |
| | Modelling action potentials and membrane currents of mammalian skeletal muscle fibres in coherence with potassium concentration changes in the T-tubular system. | Q52210127 |
| | Paradoxical depolarization of BA2+- treated muscle exposed to low extracellular K+: insights into resting potential abnormalities in hypokalemic paralysis. | Q53556880 |
| | A novel sodium channel mutation in a family with hypokalemic periodic paralysis | Q55670198 |
| | Gating Properties of SCN5A Mutations and the Response to Mexiletine in Long-QT Syndrome Type 3 Patients | Q62919317 |
| | Early onset of hypokalaemic periodic paralysis caused by a novel mutation of the CACNA1S gene. | Q64883964 |
| | Membrane defects in paramyotonia congenita (Eulenburg) | Q69406285 |
| | Altered calcium currents in human hypokalemic periodic paralysis myotubes expressing mutant L-type calcium channels | Q72062720 |
| | Insulin acts in hypokalemic periodic paralysis by reducing inward rectifier K+ current | Q73114370 |
| | Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk | Q73573721 |
| | A defect in skeletal muscle sodium channel deactivation exacerbates hyperexcitability in human paramyotonia congenita | Q74315934 |
| | Sodium channel gene mutations in hypokalemic periodic paralysis: an uncommon cause in the UK | Q74601954 |
| | A de novo missense mutation (R1623Q) of the SCN5A gene in a Japanese girl with sporadic long QT sydrome. Mutations in brief no. 140. Online | Q77313509 |
| | Gating defects of a novel Na+ channel mutant causing hypokalemic periodic paralysis | Q80062919 |
| | Homozygous SCN5A mutation in Brugada syndrome with monomorphic ventricular tachycardia and structural heart abnormalities | Q80178014 |
| | Both hypokalaemic and normokalaemic periodic paralysis in different members of a single family with novel R1129Q mutation in SCN4A gene | Q84352438 |
| | 3 Tesla sodium inversion recovery magnetic resonance imaging allows for improved visualization of intracellular sodium content changes in muscular channelopathies | Q84547980 |
| | Gating pore current in an inherited ion channelopathy | Q48799799 |
| | Voltage-shift of the current activation in HERG S4 mutation (R534C) in LQT2. | Q48897833 |
| | Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2 | Q28188391 |
| | Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A | Q28191292 |
| | The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel | Q28204946 |
| | Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita | Q28210343 |
| | A calcium channel mutation causing hypokalemic periodic paralysis | Q28242375 |
| | Dihydropyridine receptor mutations cause hypokalemic periodic paralysis | Q28243593 |
| | A Cacna1a knockin migraine mouse model with increased susceptibility to cortical spreading depression | Q28248603 |
| | A novel R1347Q mutation in the predicted voltage sensor segment of the P/Q-type calcium-channel alpha-subunit in a family with progressive cerebellar ataxia and hemiplegic migraine | Q28251552 |
| | A novel SCN4A mutation causing myotonia aggravated by cold and potassium | Q28256356 |
| | Familial hemiplegic migraine mutations change alpha1A Ca2+ channel kinetics | Q28263620 |
| | Paramyotonia congenita: the R1448P Na+ channel mutation in adult human skeletal muscle | Q28277370 |
| | Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene | Q28284955 |
| | Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4 | Q28295213 |
| | An epilepsy mutation in the sodium channel SCN1A that decreases channel excitability | Q28300929 |
| | The Genotype and Clinical Phenotype of Korean Patients with Familial Hypokalemic Periodic Paralysis | Q29398134 |
| | Altered function of the SCN1A voltage-gated sodium channel leads to gamma-aminobutyric acid-ergic (GABAergic) interneuron abnormalities | Q30493834 |
| | Decreased hemispheric water mobility in hemiplegic migraine related to mutation of CACNA1A gene | Q30586527 |
| | Serial MRI in a case of familial hemiplegic migraine | Q30782476 |
| | From swelling to sclerosis: acute change in mesial hippocampus after prolonged febrile seizure | Q30796543 |
| | Genomic organization and mutational analysis of HERG, a gene responsible for familial long QT syndrome | Q32062885 |
| | Long QT syndrome in neonates: conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutations | Q33151146 |
| | Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome | Q33154175 |
| | Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy | Q33590751 |
| | Voltage-gated ion channels and hereditary disease | Q33744648 |
| | Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis | Q33763782 |
| | Ion permeation and block of the gating pore in the voltage sensor of NaV1.4 channels with hypokalemic periodic paralysis mutations | Q34028248 |
| | Ion Channel Voltage Sensors: Structure, Function, and Pathophysiology | Q34139997 |
| | Mutations in a dominant-negative isoform correlate with phenotype in inherited cardiac arrhythmias | Q34389321 |
| | Leaky sodium channels from voltage sensor mutations in periodic paralysis, but not paramyotonia | Q34999202 |
| | Recent advances in the pathogenesis and drug action in periodic paralyses and related channelopathies | Q35025840 |
| | Identification and functional characterization of Kir2.6 mutations associated with non-familial hypokalemic periodic paralysis. | Q35144896 |
| | Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current | Q35208537 |
| | A sodium channel knockin mutant (NaV1.4-R669H) mouse model of hypokalemic periodic paralysis | Q35370222 |
| | Gating currents from Kv7 channels carrying neuronal hyperexcitability mutations in the voltage-sensing domain. | Q35843838 |
| | Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro | Q36004026 |
| | A Na+ channel mutation linked to hypokalemic periodic paralysis exposes a proton-selective gating pore | Q36299707 |
| | Histidine scanning mutagenesis of basic residues of the S4 segment of the shaker k+ channel | Q36444662 |
| | Gating pore currents in DIIS4 mutations of NaV1.4 associated with periodic paralysis: saturation of ion flux and implications for disease pathogenesis | Q36908941 |
| | R231C mutation in KCNQ1 causes long QT syndrome type 1 and familial atrial fibrillation | Q36996166 |
| | Depolarization-activated gating pore current conducted by mutant sodium channels in potassium-sensitive normokalemic periodic paralysis | Q37018940 |
| | Nervous system KV7 disorders: breakdown of a subthreshold brake | Q37073177 |
| | K+-dependent paradoxical membrane depolarization and Na+ overload, major and reversible contributors to weakness by ion channel leaks | Q37102151 |
| | Translational research in epilepsy genetics: sodium channels in man to interneuronopathy in mouse | Q37367148 |
| | Muscle channelopathies: does the predicted channel gating pore offer new treatment insights for hypokalaemic periodic paralysis? | Q37685726 |
| | Voltage-sensor mutations in channelopathies of skeletal muscle | Q37692699 |
| | NaV1.1 channels and epilepsy | Q37701079 |
| | Sodium channelopathies of skeletal muscle result from gain or loss of function | Q37711046 |
| | Sodium channel SCN1A and epilepsy: mutations and mechanisms | Q37787324 |
| | Sporadic and familial hemiplegic migraine: pathophysiological mechanisms, clinical characteristics, diagnosis, and management | Q37860502 |
| | Insights into pathophysiology and therapy from a mouse model of Dravet syndrome | Q37861266 |
| | Acute drug administration in epilepsy: a review | Q37939359 |
| | Gating of the HypoPP-1 mutations: I. Mutant-specific effects and cooperativity | Q40164179 |
| | Impaired inactivation gate stabilization predicts increased persistent current for an epilepsy-associated SCN1A mutation. | Q40275732 |
| | Compound heterozygosity for mutations (W156X and R225W) in SCN5A associated with severe cardiac conduction disturbances and degenerative changes in the conduction system | Q40672037 |
| | Enhanced inactivation and pH sensitivity of Na(+) channel mutations causing hypokalaemic periodic paralysis type II. | Q40742646 |
| | Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis | Q40780362 |
| | A sodium channel mutation causing epilepsy in man exhibits subtle defects in fast inactivation and activation in vitro | Q40837265 |
| | The human skeletal muscle Na channel mutation R669H associated with hypokalemic periodic paralysis enhances slow inactivation. | Q40907023 |
| | Mutant channels contribute <50% to Na+ current in paramyotonia congenita muscle | Q40950898 |
| | Calcium currents and transients of native and heterologously expressed mutant skeletal muscle DHP receptor alpha1 subunits (R528H) | Q41057145 |
| | Ranolazine selectively blocks persistent current evoked by epilepsy‐associated NaV1.1 mutations | Q41121995 |
| | Two human paramyotonia congenita mutations have opposite effects on lidocaine block of Na+ channels expressed in a mammalian cell line | Q41161442 |
| | Electrophysiological properties of the hypokalaemic periodic paralysis mutation (R528H) of the skeletal muscle alpha 1s subunit as expressed in mouse L cells. | Q41215041 |
| | Double gaps along Shaker S4 demonstrate omega currents at three different closed states | Q42642727 |
| | The biophysical and pharmacological characteristics of skeletal muscle ATP-sensitive K+ channels are modified in K+-depleted rat, an animal model of hypokalemic periodic paralysis | Q42680605 |
| | Do hyperpolarization-induced proton currents contribute to the pathogenesis of hypokalemic periodic paralysis, a voltage sensor channelopathy? | Q42868384 |
| | A proton pore in a potassium channel voltage sensor reveals a focused electric field | Q44757373 |
| | Acetazolamide Prophylaxis in Hypokalemic Periodic Paralysis | Q44944724 |
| | New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis | Q45185824 |
| | Voltage-sensing arginines in a potassium channel permeate and occlude cation-selective pores | Q45252796 |
| | Voltage-dependent proton transport by the voltage sensor of the Shaker K+ channel. | Q46015095 |
| | The construction and preliminary investigation of the cell model of a novel mutation R675Q in the SCN4A gene identified in a Chinese family with normokalemic periodic paralysis | Q46209058 |
| | Ion permeation through a voltage- sensitive gating pore in brain sodium channels having voltage sensor mutations | Q46615032 |
| | What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed | Q46827317 |
| | Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland | Q47398470 |
| | Hippocampal abnormalities after prolonged febrile convulsion: a longitudinal MRI study | Q47668145 |
| | 3D radial projection technique with ultrashort echo times for sodium MRI: clinical applications in human brain and skeletal muscle. | Q48326797 |
| | Prolonged febrile seizures are associated with hippocampal vasogenic edema and developmental changes | Q48418963 |
| | Implication of augmented vasogenic leakage in the mechanism of persistent aura in sporadic hemiplegic migraine | Q48653787 |
| | Impaired stretch modulation in potentially lethal cardiac sodium channel mutants | Q48706868 |
| | Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations | Q48782947 |
| P921 | main subject | pathophysiology | Q1135939 |
| P304 | page(s) | 112 | |
| P577 | publication date | 2012-06-11 | |
| P1433 | published in | Frontiers in Pharmacology | Q2681208 |
| P1476 | title | Pathophysiological role of omega pore current in channelopathies | |
| P478 | volume | 3 | |