Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A

F Brancati; E M Valente; N P Davies; A Sarkozy; M G Sweeney; M LoMonaco; A Pizzuti; M G Hanna; B Dallapiccola

doi:10.1136/jnnp.74.9.1339

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Short report

Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A

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	Abstract	Full	Pdf
Aug 2003	33	30	8
Sep 2003	18	61	28
Oct 2003	6	34	17
Nov 2003	6	29	14
Dec 2003	1	16	10
Jan 2004	3	15	6
Feb 2004	4	24	12
Mar 2004	0	4	4
Apr 2004	5	22	13
May 2004	0	9	4
Jun 2004	3	16	11
Jul 2004	39	59	6
Aug 2004	37	57	5
Sep 2004	24	29	11
Oct 2004	12	17	9
Nov 2004	8	27	13
Dec 2004	14	33	13
Jan 2005	11	24	6
Feb 2005	10	54	27
Mar 2005	8	15	6
Apr 2005	7	25	21
May 2005	4	25	13
Jun 2005	9	44	12
Jul 2005	7	21	12
Aug 2005	6	44	10
Sep 2005	2	35	11
Oct 2005	7	35	11
Nov 2005	3	34	5
Dec 2005	18	22	8
Jan 2006	6	41	5
Feb 2006	5	24	7
Mar 2006	3	34	12
Apr 2006	5	16	5
May 2006	0	14	4
Jun 2006	3	16	5
Jul 2006	5	13	4
Aug 2006	1	8	6
Sep 2006	4	18	10
Oct 2006	3	21	4
Nov 2006	2	19	15
Dec 2006	5	17	6
Jan 2007	2	25	14
Feb 2007	0	18	15
Mar 2007	4	14	13
Apr 2007	9	4	2
May 2007	2	6	6
Jun 2007	5	4	5
Jul 2007	4	2	2
Aug 2007	4	6	6
Sep 2007	5	6	4
Oct 2007	7	5	4
Nov 2007	6	2	6
Dec 2007	8	5	2
Jan 2008	1	3	1
Feb 2008	5	6	5
Mar 2008	13	8	7
Apr 2008	3	2	4
May 2008	12	4	3
Jun 2008	17	4	2
Jul 2008	14	0	0
Aug 2008	15	6	5
Sep 2008	8	1	0
Oct 2008	5	5	2
Nov 2008	16	3	2
Dec 2008	5	6	5
Jan 2009	12	2	5
Feb 2009	11	5	2
Mar 2009	4	0	1
Apr 2009	7	1	2
May 2009	5	0	2
Jun 2009	1	0	1
Jul 2009	4	4	3
Aug 2009	6	2	2
Sep 2009	3	5	3
Oct 2009	11	1	0
Nov 2009	13	1	2
Dec 2009	5	1	2
Jan 2010	18	0	5
Feb 2010	4	0	0
Mar 2010	5	6	6
Apr 2010	38	1	2
May 2010	17	1	2
Jun 2010	9	0	3
Jul 2010	8	2	3
Aug 2010	4	2	3
Sep 2010	13	0	1
Oct 2010	28	9	2
Nov 2010	16	0	1
Dec 2010	7	1	1
Jan 2011	14	0	2
Feb 2011	9	3	12
Mar 2011	10	0	3
Apr 2011	19	2	1
May 2011	5	2	2
Jun 2011	6	0	0
Jul 2011	10	1	1
Aug 2011	21	2	1
Sep 2011	11	0	0
Oct 2011	8	1	3
Nov 2011	11	2	1
Dec 2011	13	11	6
Jan 2012	11	10	10
Feb 2012	6	9	4
Mar 2012	6	6	7
Apr 2012	6	17	5
May 2012	5	15	8
Jun 2012	18	14	14
Jul 2012	5	10	8
Aug 2012	5	8	6
Sep 2012	9	7	8
Oct 2012	9	11	10
Nov 2012	13	15	7
Dec 2012	8	5	6
Jan 2013	12	17	24
Feb 2013	8	5	1
Mar 2013	13	11	12
Apr 2013	8	20	11
May 2013	3	7	9
Jun 2013	3	5	6
Jul 2013	0	4	1
Aug 2013	2	3	4
Sep 2013	7	6	10
Oct 2013	6	8	5
Nov 2013	11	5	5
Dec 2013	2	10	7
Jan 2014	6	15	7
Feb 2014	3	17	4
Mar 2014	5	12	7
Apr 2014	8	8	8
May 2014	4	9	2
Jun 2014	5	13	5
Jul 2014	8	17	9
Aug 2014	6	6	3
Sep 2014	4	9	1
Oct 2014	3	5	2
Nov 2014	7	14	1
Dec 2014	9	0	2
Jan 2015	5	2	1
Feb 2015	3	1	4
Mar 2015	7	21	4
Apr 2015	9	14	2
May 2015	2	13	5
Jun 2015	4	14	4
Jul 2015	1	7	0
Aug 2015	1	7	5
Sep 2015	6	3	1
Oct 2015	6	3	0
Nov 2015	10	3	3
Dec 2015	8	6	0
Jan 2016	2	2	2
Feb 2016	4	5	0
Mar 2016	6	2	1
Apr 2016	6	2	0
May 2016	4	2	1
Jun 2016	9	6	1
Jul 2016	9	5	0
Aug 2016	10	5	2
Sep 2016	11	8	2
Oct 2016	16	12	2
Nov 2016	7	6	0
Dec 2016	7	8	0
Jan 2017	15	7	5
Feb 2017	3	9	3
Mar 2017	2	12	5
Apr 2017	3	19	1
May 2017	5	11	1
Jun 2017	4	9	2
Jul 2017	6	5	0
Aug 2017	9	9	4
Sep 2017	12	10	1
Oct 2017	14	10	2
Nov 2017	26	22	0
Dec 2017	13	9	2
Jan 2018	19	9	0
Feb 2018	22	17	5
Mar 2018	26	21	2
Apr 2018	24	23	1
May 2018	29	21	2
Jun 2018	33	27	1
Jul 2018	10	10	4
Aug 2018	10	8	2
Sep 2018	18	10	0
Oct 2018	10	6	2
Nov 2018	11	9	4
Dec 2018	10	10	1
Jan 2019	14	12	5
Feb 2019	7	7	7
Mar 2019	7	7	3
Apr 2019	5	2	5
May 2019	9	1	7
Jun 2019	3	3	3
Jul 2019	6	4	5
Aug 2019	10	10	4
Sep 2019	10	10	5
Oct 2019	6	6	7
Nov 2019	7	7	6
Dec 2019	16	16	5
Jan 2020	17	17	7
Feb 2020	2	2	16
Mar 2020	0	0	2
Apr 2020	3	3	5
May 2020	11	11	2
Jun 2020	5	5	8
Jul 2020	6	4	3
Aug 2020	3	3	5
Sep 2020	14	14	8
Oct 2020	18	14	6
Nov 2020	15	14	7
Dec 2020	13	13	9
Jan 2021	16	13	5
Feb 2021	7	7	5
Mar 2021	11	9	5
Apr 2021	9	5	7
May 2021	6	6	6
Jun 2021	6	6	3
Jul 2021	14	14	15
Aug 2021	14	13	8
Sep 2021	7	9	10
Oct 2021	13	13	19
Nov 2021	8	8	16
Dec 2021	25	20	2
Jan 2022	40	38	6
Feb 2022	44	46	5
Mar 2022	75	73	13
Apr 2022	58	57	8
May 2022	73	70	10
Jun 2022	67	61	6
Jul 2022	57	55	3
Aug 2022	70	70	2
Sep 2022	54	52	11
Oct 2022	44	44	5
Nov 2022	69	67	6
Dec 2022	53	49	4
Jan 2023	52	48	4
Feb 2023	91	89	1
Mar 2023	70	71	6
Apr 2023	55	57	4
May 2023	75	76	8
Jun 2023	65	65	6
Jul 2023	60	61	8
Aug 2023	47	47	7
Sep 2023	25	23	3
Oct 2023	16	16	3
Nov 2023	38	15	5
Dec 2023	98	5	4
Jan 2024	34	1	0
Feb 2024	14	2	2
Mar 2024	137	1	0
Total	3558	3694	1320

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