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The primary periodic paralyses: diagnosis, pathogenesis and treatment.

The primary periodic paralyses: diagnosis, pathogenesis and treatment.

http://www.wikidata.org/entity/Q36272858

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Practical aspects in the management of hypokalemic periodic paralysis Channelopathies of skeletal muscle excitability Targeted mutation of mouse skeletal muscle sodium channel produces myotonia and potassium-sensitive weakness.Anti-N-methyl-D-aspartate-glutamic-receptor encephalitis presenting as paroxysmal exercise-induced foot weakness.The Twiddling Andersen Recurrent syncope in the Andersen Tawil syndrome - Cardiac or neurological?The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment.Diagnostics and therapy of muscle channelopathies--Guidelines of the Ulm Muscle Centre.Ion permeation and block of the gating pore in the voltage sensor of NaV1.4 channels with hypokalemic periodic paralysis mutations Hyperkalemic paralysis in primary adrenal insufficiency.Ion channel voltage sensors: structure, function, and pathophysiology.Use of acetazolamide in sulfonamide-allergic patients with neurologic channelopathies.Tetrodotoxin (TTX) as a therapeutic agent for pain.Voltage-gated sodium channels at 60: structure, function and pathophysiology.First WNK4-hypokalemia animal model identified by genome-wide association in Burmese cats.A practical approach to genetic hypokalemia.Acetazolamide prevents vacuolar myopathy in skeletal muscle of K(+) -depleted rats.Effects of acetazolamide on transient K+ currents and action potentials in nodose ganglion neurons of adult rats.Renal, ocular, and neuromuscular involvements in patients with CLDN19 mutations.Functional properties and differential neuromodulation of Na(v)1.6 channels.A sodium channel knockin mutant (NaV1.4-R669H) mouse model of hypokalemic periodic paralysis.Idiopathic generalized epilepsy and hypokalemic periodic paralysis in a family of South Indian descent.Hypermorphic mutation of the voltage-gated sodium channel encoding gene Scn10a causes a dramatic stimulus-dependent neurobehavioral phenotype.Acetazolamide efficacy in hypokalemic periodic paralysis and the predictive role of genotype Thyrotoxic Periodic Paralysis: Case Reports and an Up-to-Date Review of the Literature.Thyrotoxic Periodic Paralysis: An Underdiagnosed and Under-recognized Condition.Finding Channels.The impact of permanent muscle weakness on quality of life in periodic paralysis: a survey of 66 patients Measuring quality of life impairment in skeletal muscle channelopathies.Challenges in the design and conduct of therapeutic trials in channel disorders.Hypokalemic periodic paralysis: a model for a clinical and research approach to a rare disorder.Randomized, placebo-controlled trials of dichlorphenamide in periodic paralysis.Bumetanide prevents transient decreases in muscle force in murine hypokalemic periodic paralysis.Hypokalemic periodic paralysis.Depolarization-activated gating pore current conducted by mutant sodium channels in potassium-sensitive normokalemic periodic paralysis K+-dependent paradoxical membrane depolarization and Na+ overload, major and reversible contributors to weakness by ion channel leaks.Characterization of hyperkalemic periodic paralysis: a survey of genetically diagnosed individuals.Beneficial effects of bumetanide in a CaV1.1-R528H mouse model of hypokalaemic periodic paralysis.Skeletal muscle channelopathies: new insights into the periodic paralyses and nondystrophic myotonias.Subtype-selective targeting of voltage-gated sodium channels.

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The primary periodic paralyses: diagnosis, pathogenesis and treatment.

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P2860

Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome

Alterations in conserved Kir channel-PIP2 interactions underlie channelopathies

Identification of a mutation in the gene causing hyperkalemic periodic paralysis

Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel

Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)

Characterization of a new sodium channel mutation at arginine 1448 associated with moderate Paramyotonia congenita in humans

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

MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis

Novel KCNJ2 mutation in familial periodic paralysis with ventricular dysrhythmia

Lack of association of the potassium channel-associated peptide MiRP2-R83H variant with periodic paralysis

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10.1093/BRAIN/AWH639

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Pt 1

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129

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