Overview of included studies for PxMD-KCNA1:
Filter for
carrying
Study Study design Age restriction N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Tian, 2018 Other/Mixed none 3 n.g. 67% n.g. p.Asn255Lys: het
Yin, 2018 Mutational screen none 7 A 14% n.g. p.Leu319Arg: het
Imbrici, 2017 Case report/Case series none 1 n.g. 0% n.g. p.Glu283Lys: het
Trujillano, 2017 Mutational screen none 1 n.g. 100% n.g. p.Gly336Glu: het
Tristán-Clavijo, 2016 Family study none 1 H 0% n.g. p.Arg324Thr: het
Mestre, 2016 Family study none 5 n.g. 20% n.g. p.Phe249Cys: het
Brownstein, 2016 Family study none 6 n.g. 33% n.g. p.Ile314Thr: het
Tacik, 2015 Family study none 1 C 100% n.g. p.Val404Ile: het
Lassche, 2014 Case report/Case series none 1 n.g. 100% n.g. p.Ile262Met: het
Tan, 2013 Case report/Case series none 1 I 0% n.g. p.Ala242Pro: het