| scholarly article | Q13442814 |
| P50 | author | Ronald Gregg | Q42650166 |
| Jean Weissenbach | Q1685910 | ||
| P2093 | author name string | F Lehmann-Horn | |
| R Heine | |||
| K Jurkat-Rott | |||
| P A Powers | |||
| A Elbaz | |||
| K Hogan | |||
| J E Vale-Santos | |||
| P Lapie | |||
| P433 | issue | 8 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | hypokalemic periodic paralysis | Q622828 |
| P304 | page(s) | 1415-9 | |
| P577 | publication date | 1994-08-01 | |
| P1433 | published in | Human Molecular Genetics | Q2720965 |
| P1476 | title | A calcium channel mutation causing hypokalemic periodic paralysis | |
| P478 | volume | 3 |
| Q33599318 | A Korean family of hypokalemic periodic paralysis with mutation in a voltage-gated calcium channel (R1239G) |
| Q36299707 | A Na+ channel mutation linked to hypokalemic periodic paralysis exposes a proton-selective gating pore |
| Q36498120 | A calcium channel mutant mouse model of hypokalemic periodic paralysis |
| Q35882867 | A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q. |
| Q34145980 | A new neurological syndrome with mental retardation, choreoathetosis, and abnormal behavior maps to chromosome Xp11. |
| Q45981184 | A novel mutation in CACNA1S gene associated with hypokalemic periodic paralysis which has a gender difference in the penetrance. |
| Q35606217 | Acetazolamide efficacy in hypokalemic periodic paralysis and the predictive role of genotype |
| Q55384408 | An Improved Method for Modeling Voltage-Gated Ion Channels at Atomic Accuracy Applied to Human Cav Channels. |
| Q46154188 | An atypical CaV1.1 mutation reveals a common mechanism for hypokalemic periodic paralysis. |
| Q34738564 | An expanding view for the molecular basis of familial periodic paralysis |
| Q33966190 | Analysis of dominant mutations affecting muscle excitation in Caenorhabditis elegans |
| Q48484630 | Andersen syndrome: an association of periodic paralysis, cardiac arrhythmia and dysmorphic abnormalities |
| Q34016353 | Are some idiopathic epilepsies disorders of ion channels?: A working hypothesis. |
| Q36870057 | Bumetanide prevents transient decreases in muscle force in murine hypokalemic periodic paralysis. |
| Q24329192 | Calcium channel beta 4 (CACNB4): human ortholog of the mouse epilepsy gene lethargic |
| Q28344004 | Calcium currents and transients in co-cultured contracting normal and Duchenne muscular dystrophy human myotubes |
| Q41057145 | Calcium currents and transients of native and heterologously expressed mutant skeletal muscle DHP receptor alpha1 subunits (R528H) |
| Q38236485 | Cardiac arrhythmias in hypokalemic periodic paralysis: Hypokalemia as only cause? |
| Q40549728 | Central core disease mutations R4892W, I4897T and G4898E in the ryanodine receptor isoform 1 reduce the Ca2+ sensitivity and amplitude of Ca2+-dependent Ca2+ release |
| Q36507190 | Channeling studies in yeast: yeast as a model for channelopathies? |
| Q73238984 | Channelopathies |
| Q28082428 | Channelopathies of skeletal muscle excitability |
| Q73444599 | Channelopathies: ion channel disorders of muscle as a paradigm for paroxysmal disorders of the nervous system |
| Q41104687 | Channelopathies: the nondystrophic myotonias and periodic paralyses |
| Q40425899 | Clinical relevance of defects in signalling pathways |
| Q49388884 | Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction |
| Q41012559 | Diagnosis in neuromuscular diseases |
| Q38143226 | Diagnosis of skeletal muscle channelopathies |
| Q33807683 | Diagnostics and therapy of muscle channelopathies--Guidelines of the Ulm Muscle Centre. |
| Q92947652 | Dihydropyridine Receptor Congenital Myopathy In A Consangineous Turkish Family |
| Q39067296 | Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy |
| Q42868384 | Do hyperpolarization-induced proton currents contribute to the pathogenesis of hypokalemic periodic paralysis, a voltage sensor channelopathy? |
| Q34368117 | EFNS Task Force on Molecular Diagnosis of Neurologic Disorders: guidelines for the molecular diagnosis of inherited neurologic diseases. Second of two parts. |
| Q48907500 | Effects of mutations causing hypokalaemic periodic paralysis on the skeletal muscle L-type Ca2+ channel expressed in Xenopus laevis oocytes |
| Q41215041 | Electrophysiological properties of the hypokalaemic periodic paralysis mutation (R528H) of the skeletal muscle alpha 1s subunit as expressed in mouse L cells. |
| Q35843233 | Electrophysiology and molecular pharmacology of muscle channelopathies. |
| Q38600648 | Elevated resting H(+) current in the R1239H type 1 Hypokalemic Periodic Paralysis mutated Ca(2+) channel. |
| Q88922983 | Evaluation of mutant muscle Ca2+ channel properties using two different expression systems |
| Q70958741 | Expression and functional characterization of the cardiac L-type calcium channel carrying a skeletal muscle DHP-receptor mutation causing hypokalaemic periodic paralysis |
| Q48400032 | Expression of calcium channel alpha1A mRNA and protein in the leaner mouse (tgla/tgla) cerebellum |
| Q28295213 | Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4 |
| Q40164179 | Gating of the HypoPP-1 mutations: I. Mutant-specific effects and cooperativity |
| Q22008539 | Gating of the L-type Ca channel in human skeletal myotubes: an activation defect caused by the hypokalemic periodic paralysis mutation R528H |
| Q36908941 | Gating pore currents in DIIS4 mutations of NaV1.4 associated with periodic paralysis: saturation of ion flux and implications for disease pathogenesis |
| Q45366706 | Gender differences in penetrance and phenotype in hypokalemic periodic paralysis |
| Q73676776 | Gene table. Central nervous system/neuromuscular channelopathies |
| Q52566066 | Genetic analysis of voltage-dependent calcium channels. |
| Q34811193 | Genetic disorders of neuromuscular ion channels |
| Q36577288 | Genetic neurological channelopathies |
| Q26777559 | Genetic neurological channelopathies: molecular genetics and clinical phenotypes |
| Q33789806 | Genetics and pathogenesis of malignant hyperthermia |
| Q73299439 | Genotype-phenotype correlations of DHP receptor alpha 1-subunit gene mutations causing hypokalemic periodic paralysis |
| Q24302142 | Hypokalaemic periodic paralysis due to the CACNA1S R1239H mutation in a large African family |
| Q24673082 | Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 caucasian families |
| Q36774708 | Hypokalemic periodic paralysis: a model for a clinical and research approach to a rare disorder |
| Q41510537 | Hypokalemic periodic paralysis: an autosomal dominant muscle disorder caused by mutations in a voltage-gated calcium channel. |
| Q35663783 | Hypokalemic periodic paralysis; two different genes responsible for similar clinical manifestations. |
| Q54041410 | Hypokalemic thyrotoxic paralysis: a rare cause of tetraparesis with acute onset in Europeans. |
| Q50560371 | Identification of mutations in the CACNL1A3 gene in 13 families of Scandinavian origin having hypokalemic periodic paralysis and evidence of a founder effect in Danish families. |
| Q28183047 | Identification of new polymorphisms in the CACNA1S gene |
| Q40849747 | Impairment of skeletal muscle adenosine triphosphate-sensitive K+ channels in patients with hypokalemic periodic paralysis |
| Q35996752 | Incidental medical information in whole-exome sequencing |
| Q33735060 | Investigation of muscle disease |
| Q52536402 | Ion channel shake-down. |
| Q36577669 | Ion channels and ion transporters of the transverse tubular system of skeletal muscle |
| Q35934207 | Ion channels: function unravelled by dysfunction |
| Q37102151 | K+-dependent paradoxical membrane depolarization and Na+ overload, major and reversible contributors to weakness by ion channel leaks |
| Q52222555 | Kinetics of inactivation and restoration from inactivation of the L-type calcium current in human myotubes. |
| Q73388759 | L-type calcium current activation in cultured human myotubes |
| Q34999202 | Leaky sodium channels from voltage sensor mutations in periodic paralysis, but not paramyotonia |
| Q34471672 | Malignant hyperthermia and central core disease: disorders of Ca2+ release channels |
| Q24676753 | 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 |
| Q46135689 | Mechanisms underlying Andersen's syndrome pathology in skeletal muscle are revealed in human myotubes. |
| Q50596815 | Mef2d is essential for the maturation and integrity of retinal photoreceptor and bipolar cells. |
| Q36107015 | Molecular biology of channelopathies: impact on diagnosis and treatment. |
| Q24532297 | Muscle channelopathies and critical points in functional and genetic studies |
| Q37430127 | Muscle channelopathies and electrophysiological approach |
| Q37685726 | Muscle channelopathies: does the predicted channel gating pore offer new treatment insights for hypokalaemic periodic paralysis? |
| Q43736265 | Muscle weakness in a Japanese family of Arg1239His mutation hypokalemic periodic paralysis |
| Q24517877 | Mutation in DHP receptor alpha 1 subunit (CACLN1A3) gene in a Dutch family with hypokalaemic periodic paralysis |
| Q82140254 | Mutation screening in Chinese hypokalemic periodic paralysis patients |
| Q38239544 | Mutational consequences of aberrant ion channels in neurological disorders |
| Q89508197 | NaV1.4 DI-S4 periodic paralysis mutation R222W enhances inactivation and promotes leak current to attenuate action potentials and depolarize muscle fibers |
| Q37647775 | NaV1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery |
| Q30493341 | Neurological channelopathies |
| Q35172474 | Neurological disorders caused by inherited ion-channel mutations |
| Q33733240 | Neuromuscular disease and calcium channels |
| Q35054061 | Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a Chinese family |
| Q45783515 | Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a South American family |
| Q53361223 | Paramyotonia, potassium-aggravated myotonias and periodic paralyses. 37th ENMC International Workshop, Naarden, The Netherlands, 8-10 December 1995. |
| Q24674894 | Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q |
| Q36670607 | Paroxysmal muscle weakness: the familial periodic paralyses |
| Q36022793 | Pathophysiological role of omega pore current in channelopathies |
| Q34395667 | Pathophysiology of ion channel mutations |
| Q82029865 | Periodic paralysis |
| Q34015907 | Periodic paralysis |
| Q71437930 | Periodic paralysis and voltage-gated ion channels |
| Q34566685 | Periodic paralysis: understanding channelopathies |
| Q53961929 | Persisting fatigue and myalgia as the presenting features in a case of hypokalaemic periodic paralysis. |
| Q34716758 | Primary periodic paralyses |
| Q35025840 | Recent advances in the pathogenesis and drug action in periodic paralyses and related channelopathies |
| Q28510118 | Reduced voltage sensitivity of activation of P/Q-type Ca2+ channels is associated with the ataxic mouse mutation rolling Nagoya (tg(rol)) |
| Q71998269 | Skeletal muscle DHP receptor mutations alter calcium currents in human hypokalaemic periodic paralysis myotubes |
| Q37390029 | Skeletal muscle channelopathies: new insights into the periodic paralyses and nondystrophic myotonias |
| Q38698910 | Skeletal muscle na channel disorders |
| Q34011949 | Skeletal muscle sodium current is reduced in hypokalemic periodic paralysis |
| Q40780362 | Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis |
| Q37711046 | Sodium channelopathies of skeletal muscle result from gain or loss of function |
| Q64039626 | Strength and muscle structure preserved during long-term therapy in a patient with hypokalemic periodic paralysis (Cav1.1-R1239G) |
| Q29398134 | The Genotype and Clinical Phenotype of Korean Patients with Familial Hypokalemic Periodic Paralysis |
| Q47752223 | The familial periodic paralyses and nondystrophic myotonias |
| Q40907023 | The human skeletal muscle Na channel mutation R669H associated with hypokalemic periodic paralysis enhances slow inactivation. |
| Q36334463 | The impact of permanent muscle weakness on quality of life in periodic paralysis: a survey of 66 patients |
| Q36272858 | The primary periodic paralyses: diagnosis, pathogenesis and treatment |
| Q33510262 | The role of CACNA1S in predisposition to malignant hyperthermia |
| Q46371373 | Thyrotoxic hypocalemic periodic paralysis: report of 3 cases |
| Q54685401 | Thyrotoxic periodic paralysis associated with a mutation in the sodium channel gene SCN4A. |
| Q37383483 | Transient compartment-like syndrome and normokalaemic periodic paralysis due to a Ca(v)1.1 mutation |
| Q24242271 | Treatment for periodic paralysis |
| Q24247009 | Treatment for periodic paralysis |
| Q46957435 | Treatment of hypokalemic periodic paralysis with topiramate |
| Q33763782 | Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis |
| Q37692699 | Voltage-sensor mutations in channelopathies of skeletal muscle |
| Q35208537 | Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current |
| Q52343820 | When muscle Ca2+ channels carry monovalent cations through gating pores: insights into the pathophysiology of type 1 hypokalaemic periodic paralysis. |
| Q73085255 | [Ion-channel related muscular diseases] |
| Q80371297 | [Muscular genetic disorders caused by abnormal membrane excitability] |
Search more.