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% n.a. p.Asn255Lys: het
Yin, 2018 Mutational screen 7 A 14% n.a. 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% n.a. p.Arg324Thr: het
Mestre, 2016 Family study 5 n.a. 20% n.a. p.Phe249Cys: het
Brownstein, 2016 Family study 6 n.a. 33% n.a. p.Ile314Thr: het
Tacik, 2015 Family study 1 C 100% n.a. 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% n.a. p.Ala242Pro: het
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