Classification of primary Periodic Paralyses

Pathophysiology

A clinically useful classification of primary periodic paralyses, shown in Table 1, includes hypokalemic, hyperkalemic, and paramyotonic forms.

Table 1. Primary Periodic Paralysis (modified from Jurkat-Rott and Lehmann-Horn ) 

Disease	Gene	Protein	Inheritance	Mutation
HyperPP	SCN4A	Nav1.4	Dominant	Gain
NormoPP				Gain (ω-pore)
Paramyotoniacongenita				Gain
HypoPP Type II				Gain (ω-pore)
HypoPP Type I	CACNA1S	Cav1.1	Dominant	Gain (ω-pore)
ThyrotoxicPP	KCNJ18	Kir2.18	Dominant	Loss
Andersen-Tawil syndrome	KCNJ2	Kir2.1	Dominant	Loss

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