| scholarly article | Q13442814 |
| review article | Q7318358 |
| P356 | DOI | 10.1016/S0960-8966(97)00046-1 |
| P698 | PubMed publication ID | 9196907 |
| P2093 | author name string | L J Ptácek | |
| P2860 | cites work | The skeletal muscle chloride channel in dominant and recessive human myotonia | Q24293083 |
| 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 | ||
| Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia | Q24336984 | ||
| Temperature-sensitive mutations in the III–IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita | Q28208914 | ||
| 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 | ||
| Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy | Q28243859 | ||
| Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel | Q28292480 | ||
| A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis | Q28305953 | ||
| Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals | Q30050310 | ||
| Paroxysmal dyskinesias: clinical features and classification | Q34296711 | ||
| Proof of a non-functional muscle chloride channel in recessive myotonia congenita (Becker) by detection of a 4 base pair deletion | Q34327010 | ||
| Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita). | Q34327027 | ||
| Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features | Q34333434 | ||
| Mutations in the human skeletal muscle chloride channel gene (CLCN1) associated with dominant and recessive myotonia congenita | Q34401708 | ||
| A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197. | Q34734689 | ||
| Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro | Q36004026 | ||
| Genetics and Physiology of the Myotonic Muscle Disorders | Q40484433 | ||
| Hereditary paroxysmal ataxia: Response to acetazolamide | Q40983263 | ||
| Mechanism of voltage-dependent gating in skeletal muscle chloride channels | Q41179029 | ||
| An aspartic acid residue important for voltage-dependent gating of human muscle chloride channels | Q41316703 | ||
| K(+)-aggravated myotonia: destabilization of the inactivated state of the human muscle Na+ channel by the V1589M mutation | Q41451911 | ||
| Sodium channel mutations in paramyotonia congenita uncouple inactivation from activation | Q41491359 | ||
| Functional consequences of a Na+ channel mutation causing hyperkalemic periodic paralysis | Q41563383 | ||
| Functional expression of sodium channel mutations identified in families with periodic paralysis | Q41576682 | ||
| Familial and acquired paroxysmal dyskinesias. A proposed classification with delineation of clinical features | Q43506877 | ||
| Nocturnal paroxysmal dystonia with short-lasting attacks: three cases with evidence for an epileptic frontal lobe origin of seizures | Q44296252 | ||
| Is nocturnal paroxysmal dystonia a form of frontal lobe epilepsy? | Q48567092 | ||
| Tonic seizures induced by movement | Q53680145 | ||
| A gene for hereditary paroxysmal cerebellar ataxia maps to chromosome 19p | Q57811482 | ||
| Paroxysmal kinesigenic choreoathetosis with abnormal electroencephalogram during attacks | Q67940124 | ||
| Paroxysmal choreoathetosis: an epileptic or non-epileptic disorder? | Q70825504 | ||
| Hypnogenic paroxysmal dystonia: epileptic seizure or a new syndrome? | Q70843426 | ||
| Mapping the gene for acetazolamide responsive hereditary paryoxysmal cerebellar ataxia to chromosome 19p | Q72253581 | ||
| Genetic heterogeneity of familial hemiplegic migraine | Q72803020 | ||
| Genotype-phenotype correlations of DHP receptor alpha 1-subunit gene mutations causing hypokalemic periodic paralysis | Q73299439 | ||
| P433 | issue | 4 | |
| P921 | main subject | nervous system | Q9404 |
| P304 | page(s) | 250-255 | |
| P577 | publication date | 1997-06-01 | |
| P1433 | published in | Neuromuscular Disorders | Q1981326 |
| P1476 | title | Channelopathies: ion channel disorders of muscle as a paradigm for paroxysmal disorders of the nervous system | |
| P478 | volume | 7 |
| Q24319094 | A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns |
| Q38541552 | An Integrated View of Potassium Homeostasis |
| Q77898124 | Antibodies to ion channels |
| Q36054393 | Antidystonic effects of Kv7 (KCNQ) channel openers in the dt sz mutant, an animal model of primary paroxysmal dystonia |
| Q34016353 | Are some idiopathic epilepsies disorders of ion channels?: A working hypothesis. |
| Q46697909 | Bioinformatic analysis of human CNS-expressed ion channels as candidates for episodic nervous system disorders |
| Q24329192 | Calcium channel beta 4 (CACNB4): human ortholog of the mouse epilepsy gene lethargic |
| Q33680946 | Calcium channelopathies in the central nervous system |
| Q35172342 | Cellular biology of epileptogenesis |
| Q73238984 | Channelopathies |
| Q48335436 | Clinical features of paroxysmal kinesigenic dyskinesia: report of 24 cases |
| Q28504580 | Decreased (45)Ca(2)(+) uptake in P/Q-type calcium channels in homozygous lethargic (Cacnb4lh) mice is associated with increased beta3 and decreased beta4 calcium channel subunit mRNA expression |
| Q36493067 | Dendritic ion channelopathy in acquired epilepsy |
| Q33986250 | Differential activation of stress-response signaling in load-induced cardiac hypertrophy and failure |
| Q33678164 | Emerging insights into the genesis of epilepsy |
| Q39147509 | Epileptic Encephalopathies-Clinical Syndromes and Pathophysiological Concepts |
| Q37786731 | Epileptogenic ion channel mutations: From bedside to bench and, hopefully, back again |
| Q36774725 | Episodic ataxia type 1: a neuronal potassium channelopathy |
| Q60435835 | Gymnodinium |
| Q28080655 | Homeostasis or channelopathy? Acquired cell type-specific ion channel changes in temporal lobe epilepsy and their antiepileptic potential |
| Q43574502 | Ictal (99m)Tc ECD SPECT in paroxysmal kinesigenic choreoathetosis |
| Q59467325 | Ion channels in muscle and cardiac hereditary diseases: from gene dysfunction to pharmacological therapy |
| Q44760138 | Motor disturbances in mice with deficiency of the sodium channel gene Scn8a show features of human dystonia |
| Q36229128 | NaN, a novel voltage-gated Na channel, is expressed preferentially in peripheral sensory neurons and down-regulated after axotomy |
| Q33852476 | Neural science: a century of progress and the mysteries that remain |
| Q34514433 | No post-genetics era in human disease research |
| Q42050323 | Paroxysmal hypnogenic dyskinesia responsive to doxylamine: a case report. |
| Q35144961 | Paroxysmal kinesigenic dyskinesias |
| Q33829473 | Periodic paralyses |
| Q35981911 | Physiologic and pathophysiologic consequences of altered sialylation and glycosylation on ion channel function |
| Q46448193 | Potassium channel blockers inhibit the triggers of attacks in the calcium channel mouse mutant tottering. |
| Q42182198 | Successful control with carbamazepine of family with paroxysmal kinesigenic dyskinesia of PRRT2 mutation |
| Q99579672 | Switchable foldamer ion channels with antibacterial activity |
| Q36883128 | The Timothy syndrome mutation differentially affects voltage- and calcium-dependent inactivation of CaV1.2 L-type calcium channels |
| Q33904974 | The emergence of modern neuroscience: some implications for neurology and psychiatry |
| Q39090098 | The epileptic and nonepileptic spectrum of paroxysmal dyskinesias: Channelopathies, synaptopathies, and transportopathies |
| Q47752223 | The familial periodic paralyses and nondystrophic myotonias |
Search more.