منابع مشابه
Sodium channelopathies in skeletal muscle and brain
Ion channel disorders are rare inherited diseases providing interesting models to study dysfunction of excitability in vivo and in vitro. The first socalled ‘channelopathies’ identified were skeletal muscle diseases, the myotonias and hyperkalemic periodic paralysis (HyperPP), which are sodium or chloride channel disorders. Within the last 5–10 years, complementary genetic and electrophysiologi...
متن کاملMeasuring quality of life impairment in skeletal muscle channelopathies
BACKGROUND AND PURPOSE Fatigue and pain have been previously shown to be important determinants for decreasing quality of life (QoL) in one report in patients with non-dystrophic myotonia. The aims of our study were to assess QoL in skeletal muscle channelopathies (SMC) using INQoL (individualized QoL) and SF-36 questionnaires. METHODS We administered INQoL and SF-36 to 66 Italian patients wi...
متن کاملNovel insights into the pathomechanisms of skeletal muscle channelopathies.
The nondystrophic myotonias and primary periodic paralyses are an important group of genetic muscle diseases characterized by dysfunction of ion channels that regulate membrane excitability. Clinical manifestations vary and include myotonia, hyperkalemic and hypokalemic periodic paralysis, progressive myopathy, and cardiac arrhythmias. The severity of myotonia ranges from severe neonatal presen...
متن کاملMuscle Na channelopathies
Background: Muscle channelopathies such as paramyotonia, hyperkalemic periodic paralysis, and potassiumaggravated myotonia are caused by gain-of-function Na channel mutations. Methods: Implementation of a threedimensional radial Na magnetic resonance (MR) sequence with ultra-short echo times allowed the authors to quantify changes in the total muscular Na signal intensity. By this technique and...
متن کاملMuscle biopsy and cell cultures: potential diagnostic tools in hereditary skeletal muscle channelopathies.
Hereditary muscle channelopathies are caused by dominant mutations in the genes encoding for subunits of muscle voltage-gated ion channels. Point mutations on the human skeletal muscle Na+ channel (Nav1.4) give rise to hyperkalemic periodic paralysis, potassium aggravated myotonia, paramyotonia congenita and hypokalemic periodic paralysis type 2. Point mutations on the human skeletal muscle Ca2...
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ژورنال
عنوان ژورنال: Neurotherapeutics
سال: 2018
ISSN: 1933-7213,1878-7479
DOI: 10.1007/s13311-018-00678-0