hypokalemic periodic paralysis
- hypokalemic periodic paralysis
- an autosomal dominant disorder characterized by recurring attacks of rapidly progressive flaccid paralysis accompanied by low serum potassium levels. Several types have been distinguished: type 1 is due to mutation in the CACNL1A3 gene (locus: 1q32), which encodes a subunit of a skeletal muscle calcium channel; type 2 is due to mutation in the SCNA4A gene, (locus 17q13.1-17q13.3), which encodes a subunit of a skeletal muscle sodium channel.
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2011.
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Hypokalemic periodic paralysis — Infobox Disease Name = Hypokalemic periodic paralysis Caption = DiseasesDB = 6465 ICD10 = ICD10|G|72|3|g|70 ICD9 = ICD9|359.3 ICDO = OMIM = 170400 MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = D020514 Hypokalemic periodic paralysis is a … Wikipedia
periodic paralysis — ▪ pathology any of the forms of a rare disorder that is characterized by relatively short term, recurrent attacks of muscle weakness. Usually the disorder is inherited; it occurs three times more often in males than in females.… … Universalium
Periodic paralysis — Infobox Disease Name = PAGENAME Caption = DiseasesDB = ICD10 = ICD10|G|72|3|g|70 ICD9 = ICD9|359.3 ICDO = OMIM = MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = D010245 Periodic paralysis is a group of rare genetic diseases that lead to… … Wikipedia
familial periodic paralysis — any of several autosomal dominant conditions marked by recurring attacks of rapidly progressive flaccid paralysis, further classified on the basis of serum potassium levels; see hypokalemic periodic p. and hyperkalemic periodic p … Medical dictionary
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Paralysis — Loss of voluntary movement (motor function). Paralysis that affects only one muscle or limb is partial paralysis, also known as palsy; paralysis of all muscles is total paralysis, as may occur in cases of botulism. * * * 1. Loss of power of… … Medical dictionary
HOKPP — hypokalemic periodic paralysis … Medical dictionary
HOKPP — • hypokalemic periodic paralysis … Dictionary of medical acronyms & abbreviations
Nav1.4 — Sodium channel, voltage gated, type IV, alpha subunit Solution NMR structure of the IFM motif/inactivation gate of the NaV1.4 sodium channel (PDB 1byy) … Wikipedia
Cav1.1 — Calcium channel, voltage dependent, L type, alpha 1S subunit Identifiers Symbols CACNA1S; CACNL1A3; CCHL1A3; Cav1.1; HOKPP; HOKPP1; MHS5; TTPP1; hypoPP External IDs … Wikipedia