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Volume 47, Issue 2
De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin
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Mutation report
De novo
SCN1A
mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin
Online download statistics by month:
Online download statistics by month: July 2009 to March 2024
Abstract
Full
Pdf
Jul 2009
170
0
53
Aug 2009
207
0
18
Sep 2009
69
0
14
Oct 2009
114
0
12
Nov 2009
32
0
25
Dec 2009
29
0
13
Jan 2010
28
0
19
Feb 2010
242
12
55
Mar 2010
107
18
38
Apr 2010
57
3
19
May 2010
47
18
21
Jun 2010
40
13
20
Jul 2010
49
5
13
Aug 2010
41
6
25
Sep 2010
74
10
11
Oct 2010
53
10
14
Nov 2010
47
4
5
Dec 2010
35
9
6
Jan 2011
44
7
4
Feb 2011
46
5
5
Mar 2011
64
3
6
Apr 2011
44
6
14
May 2011
40
6
11
Jun 2011
33
6
13
Jul 2011
36
3
11
Aug 2011
36
3
10
Sep 2011
29
9
10
Oct 2011
29
5
5
Nov 2011
39
1
1
Dec 2011
37
2
7
Jan 2012
24
1
1
Feb 2012
23
3
6
Mar 2012
31
2
3
Apr 2012
44
1
5
May 2012
49
6
5
Jun 2012
44
2
8
Jul 2012
34
2
2
Aug 2012
27
6
3
Sep 2012
27
1
4
Oct 2012
35
5
8
Nov 2012
37
6
5
Dec 2012
36
5
4
Jan 2013
37
5
3
Feb 2013
26
3
4
Mar 2013
32
3
6
Apr 2013
33
2
3
May 2013
30
4
1
Jun 2013
19
3
3
Jul 2013
13
2
1
Aug 2013
18
6
4
Sep 2013
15
8
9
Oct 2013
24
12
6
Nov 2013
29
0
2
Dec 2013
18
2
2
Jan 2014
26
10
6
Feb 2014
19
5
9
Mar 2014
22
8
3
Apr 2014
37
5
3
May 2014
27
5
3
Jun 2014
12
3
1
Jul 2014
27
2
5
Aug 2014
19
4
4
Sep 2014
37
3
5
Oct 2014
15
3
3
Nov 2014
18
2
5
Dec 2014
13
2
1
Jan 2015
19
6
8
Feb 2015
19
3
5
Mar 2015
16
4
3
Apr 2015
20
8
8
May 2015
18
6
6
Jun 2015
24
1
5
Jul 2015
28
9
5
Aug 2015
18
0
2
Sep 2015
23
7
5
Oct 2015
12
5
4
Nov 2015
16
5
4
Dec 2015
19
4
2
Jan 2016
24
3
2
Feb 2016
23
5
7
Mar 2016
16
7
7
Apr 2016
92
6
5
May 2016
13
0
3
Jun 2016
23
4
3
Jul 2016
50
5
1
Aug 2016
16
3
3
Sep 2016
33
3
3
Oct 2016
24
2
1
Nov 2016
22
4
2
Dec 2016
13
4
4
Jan 2017
21
4
3
Feb 2017
18
3
1
Mar 2017
22
3
2
Apr 2017
20
3
2
May 2017
27
11
6
Jun 2017
29
7
5
Jul 2017
38
1
1
Aug 2017
79
4
4
Sep 2017
31
5
7
Oct 2017
52
4
3
Nov 2017
55
1
0
Dec 2017
40
2
3
Jan 2018
62
4
3
Feb 2018
83
2
2
Mar 2018
70
9
4
Apr 2018
79
8
4
May 2018
48
2
1
Jun 2018
72
3
7
Jul 2018
68
2
8
Aug 2018
85
5
10
Sep 2018
69
5
12
Oct 2018
64
4
8
Nov 2018
75
5
10
Dec 2018
36
0
0
Jan 2019
54
4
8
Feb 2019
50
10
5
Mar 2019
51
8
9
Apr 2019
52
4
6
May 2019
42
3
5
Jun 2019
43
0
4
Jul 2019
23
4
7
Aug 2019
89
3
5
Sep 2019
27
4
5
Oct 2019
51
1
2
Nov 2019
31
1
5
Dec 2019
38
0
5
Jan 2020
48
1
1
Feb 2020
62
0
1
Mar 2020
80
2
2
Apr 2020
33
1
0
May 2020
45
1
0
Jun 2020
24
0
0
Jul 2020
53
7
2
Aug 2020
25
2
2
Sep 2020
60
4
3
Oct 2020
61
0
1
Nov 2020
60
3
0
Dec 2020
71
6
8
Jan 2021
26
4
1
Feb 2021
59
2
0
Mar 2021
106
6
4
Apr 2021
29
3
2
May 2021
19
0
4
Jun 2021
1
0
0
Jul 2021
2
1
0
Aug 2021
2
2
2
Sep 2021
7
5
1
Oct 2021
85
8
5
Nov 2021
94
2
2
Dec 2021
97
0
4
Jan 2022
29
3
0
Feb 2022
53
7
4
Mar 2022
83
7
6
Apr 2022
153
2
7
May 2022
71
0
0
Jun 2022
111
8
7
Jul 2022
79
7
1
Aug 2022
122
5
6
Sep 2022
63
3
1
Oct 2022
143
6
2
Nov 2022
74
5
2
Dec 2022
72
3
1
Jan 2023
53
9
3
Feb 2023
95
6
0
Mar 2023
60
4
2
Apr 2023
36
2
1
May 2023
65
3
1
Jun 2023
60
2
3
Jul 2023
37
3
2
Aug 2023
29
4
0
Sep 2023
48
1
2
Oct 2023
49
3
0
Nov 2023
28
6
0
Dec 2023
44
1
1
Jan 2024
73
4
1
Feb 2024
50
2
2
Mar 2024
141
5
3
Total
8340
720
997
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