Muscle channelopathies: the nondystrophic myotonias and periodic paralyses

scientific article

Muscle channelopathies: the nondystrophic myotonias and periodic paralyses is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1212/01.CON.0000440661.49298.C8
P932PMC publication ID4234136
P698PubMed publication ID24305449

P2093author name stringRichard J Barohn
Jeffrey M Statland
P2860cites workA sodium channel defect in hyperkalemic periodic paralysis: potassium-induced failure of inactivationQ67915164
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Autosomal dominant monosymptomatic myotonia permanensQ79873682
Treatment for periodic paralysisQ24242271
Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndromeQ24291252
The skeletal muscle chloride channel in dominant and recessive human myotoniaQ24293083
Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysisQ24295040
Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodium-channel gene locusQ24678587
Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit geneQ28242463
Pathomechanisms in channelopathies of skeletal muscle and brainQ28246271
Population frequencies of inherited neuromuscular diseases—A world surveyQ28266298
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Correlating phenotype and genotype in the periodic paralysesQ28292375
Refined exercise testing can aid DNA-based diagnosis in muscle channelopathiesQ30498413
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Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita).Q34327027
A sodium channel knockin mutant (NaV1.4-R669H) mouse model of hypokalemic periodic paralysisQ35370222
Measuring quality of life impairment in skeletal muscle channelopathies.Q36382734
A calcium channel mutant mouse model of hypokalemic periodic paralysisQ36498120
Mexiletine for symptoms and signs of myotonia in nondystrophic myotonia: a randomized controlled trialQ36587149
Bumetanide prevents transient decreases in muscle force in murine hypokalemic periodic paralysis.Q36870057
Skeletal-muscle channelopathies: periodic paralysis and nondystrophic myotoniasQ36948037
Non-dystrophic myotonia: prospective study of objective and patient reported outcomesQ36953843
Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions.Q36968772
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Hereditary nondystrophic myotonias and periodic paralysesQ40935259
Paramyotonia congenita and hyperkalemic periodic paralysis are linked to the adult muscle sodium channel geneQ41135926
Severe neonatal episodic laryngospasm due to de novo SCN4A mutations: a new treatable disorderQ42936044
Anaesthetic complications associated with myotonia congenita: case study and comparison with other myotonic disordersQ44406250
Propagation disturbance of motor unit action potentials during transient paresis in generalized myotonia: a high-density surface EMG studyQ49076358
Acetazolamide-responsive myotonia congenita.Q51630181
Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia.Q51739604
Electromyography guides toward subgroups of mutations in muscle channelopathies.Q64945413
P433issue6 Muscle Disease
P304page(s)1598-1614
P577publication date2013-12-01
P1433published inContinuum : lifelong learning in neurologyQ26867022
P1476titleMuscle channelopathies: the nondystrophic myotonias and periodic paralyses
P478volume19

Reverse relations

cites work (P2860)
Q41115388Bodybuilding championships and myotonia congenita
Q38760046Dichlorphenamide: A Review in Primary Periodic Paralyses
Q36130245Normal muscle structure, growth, development, and regeneration
Q45957826Review of the Diagnosis and Treatment of Periodic Paralysis.
Q57811084Skeletal Muscle Channelopathies

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