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Overview of included studies for PxMD-KCNA1:
Click here for summary of patients' characteristics
Click here to show world map of all countries
Filter for
all included patients
index patients only
AAO < 50 (adjustable)
AAO >= 50 (adjustable)
females only
males only
homozygous only
heterozygous only
compound heterozygous only
homozygous and compound heterozygous
carrying
definitely pathogenic mutations
probably pathogenic mutations
possibly pathogenic mutations
c.1007G>A
c.1025G>T
c.1210G>A
c.1221T>G
c.1222G>T
c.1241T>C
c.1241T>G
c.1249C>T
c.500G>T
c.555C>G
c.677C>A
c.677C>G
c.677C>T
c.724G>C
c.731C>A
c.746T>G
c.748_750delTTC
c.765C>A
c.785T>C
c.786C>G
c.847G>A
c.913C>T
c.919C>T
c.941T>C
c.956T>G
c.971G>C
c.975G>C
Country
China
Italy
Lebanon
Nepal
Spain
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
1
2
3
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Feb. 11, 2020. Version: 3.5.91
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