Table 1 Epidemiological studies of skeletal muscle channelopathies

From: Molecular genetics of skeletal muscle channelopathies

Causative genes

CLCN1

SCN4A

CACNA1S

KCNJ2

Clinical phenotypes

MC

SCM & PMC

HyperPP

HypoPP2

HypoPP1

ATS

References

Country

      

Vivekanandam et al. [8] (cases)

UK

871

244

12

127

67

Stuunernberg et al. [40] (cases)

Netherland

128

160

10

10

80

17

Brugnoni et al. [41] (cases)

Italy

24*

18*

/

/

/

/

Brugnoni et al. [42] (cases)

/

/

/

12

38

/

Sasaki et al. [43] (pedigrees)

Japan

30

36

11

12

16

/

Yuan et al. [44] (cases)

39

40

/

/

/

/

Yuan et al. [45] (cases)

/

/

14

5

9

6

  1. “SCM & PMC” indicates the combined number of the two phenotypes. Parenthesis indicate the unit used to count the number of diseases. Data from Sasaki et al. are based on the number of pedigrees, whereas the other studies report the number of individual cases. Asterisks (*) indicate the number of cases after excluding cases with hetero compound variants