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Overview of included studies for PxMD-CACNA1A:
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.(3092+1_3093-1)_(5634+1_5635-1)del
c.(4253+1_4254-1)_(4391+1_4392-1)del
c.(4962+1_4963-1)_(871_?)del
c.(539+1_540-1)_(1604_?)del
c.(539+1_540-1)_(631+1_632-1)del
c.(5634+1_5635-1)_(1604_?)del
c.(5734+1_5735-1)_(5943+1_5944-1)del
c.(784+1_785-1)_(978+1_979-1)del
c.1063dupG
c.1088T>C
c.1213G>A
c.1360G>A
c.1363C>T
c.1364G>A
c.1502C>T
c.1597G>A
c.1618G>A
c.165dupA
c.1741G>C
c.1747C>T
c.1748G>A
c.1799_1800delTC
c.1849C>G
c.1872_1875delCATT
c.1913G>A
c.1997C>T
c.2003A>C
c.2042_2043delAG
c.2134A>G
c.2137G>A
c.2206C>T
c.2393T>C
c.2407C>A
c.2464dupC
c.2691dupC
c.2736G>C
c.2816delG
c.2816dupG
c.2852_2861delGCGCGGACGG
c.3092+2T>C
c.3207_3208insG
c.3396_3404dupATCCAATCC
c.3414dupC
c.3460C>T
c.3492delC
c.3695 + 1G>A
c.3695+1G>A
c.37G>A
c.3832C>T
c.3846C>G
c.3992+1G>A
c.4009A>T
c.4013T>C
c.4025T>C
c.4036C>T
c.4037G>A
c.4046G>A
c.4048G>T
c.4055G>A
c.4075C>T
c.4101T>G
c.4106G>A
c.4107T>A
c.410A>G
c.4118C>T
c.4151A>G
c.4160A>G
c.4173delC
c.4186G>A
c.4249_4253+2delTGTCGGT
c.4301G>A
c.4306T>A
c.4344G>A
c.4392-1G>C
c.4503_4505delCTT
c.4517T>C
c.4601G>C
c.4681C>T
c.4759-1545_4869+2385del
c.4845delG
c.4982G>A
c.4990C>T
c.4991G>A
c.4999C>T
c.5018G>C
c.5020C>T
c.504delC
c.5126T>C
c.5137-10_2delAATTCCACA
c.5251C>T
c.5267A>G
c.5315A>G
c.5396C>T
c.5455C>T
c.5532-2A>G
c.5605T>C
c.5629-1151_5943+452del
c.5629-2A>G
c.5776G>T
c.5838C>G
c.5871C>A
c.6053+4delAGTG
c.6269G>A
c.653C>T
c.6657_6659dupCCA
c.6975_6976insCAG
c.743A>G
c.757C>T
c.766T>C
c.785-2645_978+14740del
c.815G>A
c.835C>T
c.877G>A
c.889G>A
c.904G>A
c.978+1G>A
c.979-1G>A
c.979-2453_1348+3157del
Country
Australia
Austria
China
Estonia
Finland
France
Italy
Japan
Morocco
Netherlands
Portugal
Slovakia
South Korea
Spain
Sweden
Switzerland
United Kingdom
United States
Study
Study design
N cases
Ethnicities
Sex
(%
♂
)
Mean AAO (+/- SD)
Reported mutations
Self, 2009
Family study
2
n.a.
0%
34(+/-2)
p.Phe1367Leu
: het
Zafeiriou, 2009
Family study
2
n.a.
50%
2(+/-1)
p.Tyr248Cys
: het
Guerin, 2008
Case report/Case series
1
n.a.
0%
1
p.Ile712Val
: het
Roubertie, 2008
Family study
6
n.a.
33%
3(+/-3)
p.Gln736*
: het
Yabe, 2008
Family study
3
n.a.
67%
20
p.Thr666Met
: het
Riant, 2008
Family study
3
n.a.
33%
n.a.
c.(4962+1_4963-1)_(*871_?)del
: het
Marti, 2008
Family study
2
n.a.
0%
39(+/-13)
p.Arg1667Trp
: het
Stam, 2008
Family study
6
n.a.
67%
3
p.Arg1346Gln
: het
Krishnan, 2008
Family study
5
n.a.
80%
23(+/-22)
p.Trp1448*
: het
Cricchi, 2007
Family study
2
n.a.
0%
30
p.Ala454Thr
: het
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Feb. 11, 2020. Version: 3.5.91
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