Overview of included studies for PxMD-KCNA1:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% ♂) 		Mean AAO (+/- SD) Reported mutations
Tian, 2018 Other/Mixed 3 n.a. 67% 13(+/-2) p.Asn255Lys: het
Yin, 2018 Mutational screen 7 A 14% 16(+/-9) p.Leu319Arg: het
Imbrici, 2017 Case report/Case series 1 n.a. 0% n.a. p.Glu283Lys: het
Trujillano, 2017 Mutational screen 1 n.a. 100% n.a. p.Gly336Glu: het
Tristán-Clavijo, 2016 Family study 1 H 0% 6 p.Arg324Thr: het
Mestre, 2016 Family study 5 n.a. 20% 11(+/-1) p.Phe249Cys: het
Brownstein, 2016 Family study 6 n.a. 33% 7(+/-3) p.Ile314Thr: het
Tacik, 2015 Family study 1 C 100% 1 p.Val404Ile: het
Lassche, 2014 Case report/Case series 1 n.a. 100% n.a. p.Ile262Met: het
Tan, 2013 Case report/Case series 1 I 0% 2 p.Ala242Pro: het
© University of Lübeck. Last updated on Dec. 2, 2020. Version: 3.5.95