Disease #01500 (HOKPP (paralysis, hypokalemic, periodic (HOKPP)))

Official abbreviation HOKPP
Name paralysis, hypokalemic, periodic (HOKPP)
OMIM ID -
Inheritance -
Individuals reported having this disease 13
Phenotype entries for this disease 14
Associated with 2 genes CACNA1S, SCN4A
Associated tissues -
Disease features -
Remarks -


Individuals

13 entries on 1 page. Showing entries 1 - 13.
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00110721 - Elbaz 1995 - - - - - - 0 - - HOKPP Hypokalaemic periodic paralysis CACNA1S CACNA1S 1 1 Johan den Dunnen
00110722 - Houinato 2007 The proband was a 19 years old man. Paralytic attacks began at age 17, had a frequency of two times a year and spontaneously regressed within 2?4 days. His mother and uncle were known to have a similar disorder. The fourth attack leading to the diagnosis - - - - - 0 - - HOKPP Hypokalaemic periodic paralysis CACNA1S CACNA1S 1 1 Johan den Dunnen
00110724 - Jurkat-rott 1994 - - - - - - 0 - - HOKPP Hypokalaemic periodic paralysis CACNA1S CACNA1S 1 1 Johan den Dunnen
00110725 - Jurkat-rott 2000 - - - - - - 0 - - HOKPP Hypokalaemic periodic paralysis CACNA1S CACNA1S 1 1 Johan den Dunnen
00110726 - Kim 2001 - - - - - - 0 - - HOKPP Hypokalaemic periodic paralysis CACNA1S CACNA1S 1 1 Johan den Dunnen
00110727 - Meyer 2007 The index patient (II:4, Fig. 1), a 67-year-old man, was born to unrelated parents. At age 17 he developed period paralysis which was responsive to potassium administration. Permanent residual weakness began at the age of 50 with proximal weakness of the - - - - - 0 - - HOKPP Hypokalaemic periodic paralysis CACNA1S CACNA1S 1 1 Johan den Dunnen
00110729 - Ptacek 1994 - - - - - - 0 - - HOKPP Hypokalaemic periodic paralysis CACNA1S CACNA1S 1 1 Johan den Dunnen
00110730 - Wang 2005 The proband is a 53-year-old male, first total muscle weakness attack at the age of 16. The attacks usually occur after excessive intake of carbohydrate-rich meals, several hours following strenuous exercise, after sudden exposure - - - - - 0 - - HOKPP Hypokalaemic periodic paralysis CACNA1S CACNA1S 1 1 Johan den Dunnen
00112845 - Leiden, unpublished - - - Netherlands - - 0 - - HOKPP - SCN4A SCN4A 8 1 Vincent Janmaat
00112914 - Lerche [1993] severely affected patient suffering from hypoxia due to stifness of the respiratory muscles. Muscle stiffness was not influenced by cold but did aggravate after oral intake of K. - - Netherlands - - 0 - - HOKPP - SCN4A SCN4A 1 1 Vincent Janmaat
00112917 - Leiden, unpublished - - - Netherlands - - 0 - - HOKPP - SCN4A SCN4A 3 1 Vincent Janmaat
00112940 - Leiden, unpublished - - - Netherlands - - 0 - - HOKPP - SCN4A SCN4A 3 1 Vincent Janmaat
00164628 - - - - - - - - 0 - - HOKPP - - MCM3AP 1 4 Emil Gustavsson
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