Mixed Periodic Paralysis & Myotonia Mutant Imparts pH Sensitivity in NaV1.4
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چکیده
منابع مشابه
Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis
Mutations in the skeletal muscle channel (SCN4A), encoding the Nav1.4 voltage-gated sodium channel, are causative of a variety of muscle channelopathies, including non-dystrophic myotonias and periodic paralysis. The effects of many of these mutations on channel function have been characterized both in vitro and in vivo. However, little is known about the consequences of SCN4A mutations downstr...
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Hypokalaemic periodic paralysis (hypoPP) is a dominantly inherited muscle disorder characterized by episodes of flaccid weakness. Previous genetic studies revealed mutations in the voltage-gated calcium channel alpha1-subunit (CACNA1S gene) in families with hypoPP (type I). Electrophysiological studies on these mutants in different expression systems could not explain the pathophysiology of the...
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Hypokalemic periodic paralysis (HypoPP) is a familial skeletal muscle disorder that presents with recurrent episodes of severe weakness lasting hours to days associated with reduced serum potassium (K+). HypoPP is genetically heterogeneous, with missense mutations of a calcium channel (Ca(V)1.1) or a sodium channel (Na(V)1.4) accounting for 60% and 20% of cases, respectively. The mechanistic li...
متن کاملFamilial Periodic Paralysis
Familial periodic paralysis is a malady usually characterized by (1) recurrent flaccid muscular paralysis, (2) history of the disease in other members of the family, (3) depression of the level of potassium ions in the blood serum during an episode of paresis, (4) impairment of electrical excitability of the musculature, (5) impairment of deep reflexes, (6) retention of consciousness without al...
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ژورنال
عنوان ژورنال: Biophysical Journal
سال: 2017
ISSN: 0006-3495
DOI: 10.1016/j.bpj.2016.11.1319