Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome

Christel Depienne; Oriane Trouillard; Isabelle Gourfinkel-An; Cécile Saint-Martin; Delphine Bouteiller; Denis Graber; Marie-Anne Barthez-Carpentier; Agnès Gautier; Nathalie Villeneuve; Charlotte Dravet; Marie-Odile Livet; Clothilde Rivier-Ringenbach; Claude Adam; Sophie Dupont; Stéphanie Baulac; Delphine Héron; Rima Nabbout; Eric LeGuern

doi:10.1136/jmg.2009.074328

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Original article

Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome

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	Abstract	Full	Pdf
Jun 2010	202	44	104
Jul 2010	65	45	40
Aug 2010	98	45	46
Sep 2010	370	389	156
Oct 2010	99	85	54
Nov 2010	33	17	14
Dec 2010	40	18	17
Jan 2011	42	9	6
Feb 2011	52	13	13
Mar 2011	69	12	26
Apr 2011	33	15	17
May 2011	49	4	8
Jun 2011	36	6	8
Jul 2011	37	13	15
Aug 2011	24	9	11
Sep 2011	31	18	16
Oct 2011	34	16	9
Nov 2011	51	8	6
Dec 2011	49	8	7
Jan 2012	49	8	12
Feb 2012	21	2	3
Mar 2012	60	6	3
Apr 2012	35	7	5
May 2012	70	8	6
Jun 2012	42	21	12
Jul 2012	52	10	6
Aug 2012	21	6	8
Sep 2012	39	8	3
Oct 2012	42	8	7
Nov 2012	36	7	9
Dec 2012	28	7	7
Jan 2013	64	10	5
Feb 2013	29	6	7
Mar 2013	28	10	9
Apr 2013	42	10	8
May 2013	35	9	10
Jun 2013	35	7	8
Jul 2013	33	5	6
Aug 2013	31	9	4
Sep 2013	20	10	5
Oct 2013	24	7	8
Nov 2013	38	8	7
Dec 2013	24	10	12
Jan 2014	23	13	8
Feb 2014	24	6	6
Mar 2014	29	10	7
Apr 2014	25	14	15
May 2014	27	8	3
Jun 2014	38	5	2
Jul 2014	25	9	9
Aug 2014	14	8	2
Sep 2014	21	7	7
Oct 2014	15	5	10
Nov 2014	17	5	5
Dec 2014	28	6	4
Jan 2015	15	5	7
Feb 2015	24	8	6
Mar 2015	23	9	11
Apr 2015	26	9	12
May 2015	13	6	9
Jun 2015	14	12	9
Jul 2015	7	4	2
Aug 2015	18	5	3
Sep 2015	35	4	7
Oct 2015	17	3	6
Nov 2015	29	8	8
Dec 2015	25	13	16
Jan 2016	15	4	4
Feb 2016	14	4	7
Mar 2016	24	8	6
Apr 2016	24	3	5
May 2016	11	4	5
Jun 2016	24	9	6
Jul 2016	27	9	11
Aug 2016	27	5	8
Sep 2016	31	2	3
Oct 2016	29	12	8
Nov 2016	40	9	8
Dec 2016	23	5	3
Jan 2017	27	8	10
Feb 2017	16	10	9
Mar 2017	31	16	14
Apr 2017	32	10	12
May 2017	36	8	7
Jun 2017	51	3	7
Jul 2017	58	6	7
Aug 2017	91	10	6
Sep 2017	102	11	6
Oct 2017	89	10	8
Nov 2017	121	7	7
Dec 2017	147	5	4
Jan 2018	127	6	5
Feb 2018	81	14	12
Mar 2018	145	15	7
Apr 2018	110	11	13
May 2018	105	5	3
Jun 2018	82	13	7
Jul 2018	62	10	3
Aug 2018	99	2	4
Sep 2018	88	9	3
Oct 2018	117	7	3
Nov 2018	93	9	4
Dec 2018	100	4	2
Jan 2019	86	10	6
Feb 2019	71	11	5
Mar 2019	46	4	2
Apr 2019	47	7	3
May 2019	58	10	4
Jun 2019	46	8	5
Jul 2019	62	13	6
Aug 2019	33	7	3
Sep 2019	48	3	5
Oct 2019	77	8	4
Nov 2019	60	5	5
Dec 2019	59	6	8
Jan 2020	68	9	5
Feb 2020	67	6	3
Mar 2020	76	11	8
Apr 2020	68	11	7
May 2020	41	4	1
Jun 2020	65	9	2
Jul 2020	48	0	0
Aug 2020	50	5	2
Sep 2020	66	4	3
Oct 2020	74	8	7
Nov 2020	91	7	2
Dec 2020	57	4	3
Jan 2021	76	8	4
Feb 2021	36	2	1
Mar 2021	63	4	3
Apr 2021	71	5	2
May 2021	52	5	3
Jun 2021	9	7	5
Jul 2021	5	3	1
Aug 2021	5	5	0
Sep 2021	8	10	6
Oct 2021	121	5	7
Nov 2021	47	4	2
Dec 2021	63	8	1
Jan 2022	73	13	4
Feb 2022	114	12	5
Mar 2022	83	6	2
Apr 2022	81	6	6
May 2022	68	2	1
Jun 2022	119	9	8
Jul 2022	85	8	4
Aug 2022	114	8	7
Sep 2022	73	5	4
Oct 2022	193	8	3
Nov 2022	79	2	2
Dec 2022	51	5	3
Jan 2023	138	16	1
Feb 2023	105	3	4
Mar 2023	59	5	2
Apr 2023	77	7	2
May 2023	53	4	2
Jun 2023	105	6	1
Jul 2023	60	7	0
Aug 2023	63	5	4
Sep 2023	37	2	1
Oct 2023	112	6	5
Nov 2023	199	10	1
Dec 2023	66	3	1
Jan 2024	64	1	0
Feb 2024	122	3	3
Mar 2024	236	14	4
Total	9792	1850	1368

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