A novel mutation (R218Q) at the boundary between the N-terminal and the first transmembrane domain of the glycine receptor in a case of sporadic hyperekplexia

E Miraglia Del Giudice; G Coppola; G Bellini; P Ledaal; J M Hertz; A Pascotto

doi:10.1136/jmg.40.5.e71

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A novel mutation (R218Q) at the boundary between the N-terminal and the first transmembrane domain of the glycine receptor in a case of sporadic hyperekplexia

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	Abstract	Full	Pdf
May 2003	0	40	11
Jun 2003	0	49	22
Jul 2003	0	71	19
Aug 2003	0	25	8
Sep 2003	0	18	2
Oct 2003	0	62	8
Nov 2003	0	19	7
Dec 2003	0	17	4
Jan 2004	0	14	4
Feb 2004	0	11	1
Mar 2004	0	18	1
Apr 2004	0	15	3
May 2004	0	46	9
Jun 2004	0	41	8
Jul 2004	0	56	6
Aug 2004	0	81	8
Sep 2004	0	84	6
Oct 2004	13	35	7
Nov 2004	11	27	8
Dec 2004	5	23	2
Jan 2005	9	30	4
Feb 2005	5	27	9
Mar 2005	10	20	10
Apr 2005	1	10	5
May 2005	2	10	6
Jun 2005	0	11	10
Jul 2005	6	20	13
Aug 2005	1	10	2
Sep 2005	1	16	3
Oct 2005	2	21	8
Nov 2005	0	15	2
Dec 2005	3	10	9
Jan 2006	2	7	3
Feb 2006	2	14	1
Mar 2006	4	20	9
Apr 2006	1	8	4
May 2006	1	14	2
Jun 2006	1	12	2
Jul 2006	2	9	3
Aug 2006	2	7	1
Sep 2006	1	6	5
Oct 2006	4	14	2
Nov 2006	0	12	2
Dec 2006	0	6	1
Jan 2007	1	9	4
Feb 2007	0	10	6
Mar 2007	4	7	4
Apr 2007	5	0	1
May 2007	2	1	1
Jun 2007	6	1	0
Jul 2007	3	3	0
Aug 2007	2	3	4
Sep 2007	2	0	2
Oct 2007	2	0	2
Nov 2007	0	1	3
Dec 2007	0	0	2
Jan 2008	1	1	0
Feb 2008	6	2	2
Mar 2008	2	4	8
Apr 2008	5	2	0
May 2008	0	1	1
Jun 2008	5	1	0
Jul 2008	3	1	3
Aug 2008	9	6	3
Sep 2008	11	1	0
Oct 2008	6	2	1
Nov 2008	11	2	0
Dec 2008	1	3	2
Feb 2009	3	1	1
Mar 2009	1	4	2
Apr 2009	1	1	0
May 2009	12	0	0
Jun 2009	6	1	0
Jul 2009	5	2	1
Aug 2009	2	1	0
Sep 2009	3	1	1
Oct 2009	3	1	0
Nov 2009	5	3	0
Dec 2009	6	0	1
Jan 2010	0	5	2
Mar 2010	2	3	2
Apr 2010	3	1	0
May 2010	1	0	1
Jun 2010	3	0	0
Jul 2010	0	0	1
Aug 2010	2	1	2
Sep 2010	9	5	2
Oct 2010	17	9	1
Nov 2010	7	5	0
Dec 2010	12	1	1
Jan 2011	1	0	1
Feb 2011	3	7	0
Mar 2011	11	1	2
Apr 2011	8	4	1
May 2011	43	7	3
Jun 2011	61	6	0
Jul 2011	17	2	1
Aug 2011	26	0	0
Sep 2011	14	5	0
Oct 2011	16	6	2
Nov 2011	31	13	2
Dec 2011	6	17	4
Jan 2012	9	21	0
Feb 2012	4	7	0
Mar 2012	3	14	6
Apr 2012	3	24	4
May 2012	3	27	2
Jun 2012	6	17	2
Jul 2012	6	17	3
Aug 2012	8	17	4
Sep 2012	8	17	2
Oct 2012	10	23	7
Nov 2012	0	14	7
Dec 2012	0	4	3
Jan 2013	0	19	3
Feb 2013	0	3	5
Mar 2013	0	6	5
Apr 2013	0	3	4
May 2013	0	7	1
Jun 2013	1	3	1
Jul 2013	3	3	0
Aug 2013	2	5	0
Sep 2013	7	6	3
Oct 2013	6	8	0
Nov 2013	2	10	2
Dec 2013	0	13	0
Jan 2014	6	19	1
Feb 2014	5	20	2
Mar 2014	11	54	3
Apr 2014	13	37	0
May 2014	4	83	0
Jun 2014	3	48	0
Jul 2014	10	12	2
Aug 2014	7	11	0
Sep 2014	10	15	0
Oct 2014	0	2	0
Nov 2014	4	3	1
Dec 2014	6	2	1
Jan 2015	4	6	1
Feb 2015	3	2	2
Mar 2015	6	3	2
Apr 2015	4	3	0
May 2015	3	7	0
Jun 2015	12	4	2
Jul 2015	6	7	1
Aug 2015	2	1	2
Sep 2015	2	4	1
Oct 2015	2	3	1
Nov 2015	2	0	1
Dec 2015	4	4	1
Jan 2016	4	4	3
Feb 2016	1	2	2
Mar 2016	0	12	2
Apr 2016	2	3	2
May 2016	10	10	2
Jun 2016	4	3	7
Jul 2016	3	8	2
Aug 2016	3	2	4
Sep 2016	5	5	4
Oct 2016	2	3	3
Nov 2016	15	4	1
Dec 2016	7	1	0
Jan 2017	6	7	2
Feb 2017	3	1	0
Mar 2017	0	9	0
Apr 2017	0	5	0
May 2017	0	7	0
Jun 2017	4	10	4
Jul 2017	9	9	2
Aug 2017	7	7	0
Sep 2017	15	13	0
Oct 2017	12	12	7
Nov 2017	10	10	0
Dec 2017	3	3	1
Jan 2018	11	12	0
Feb 2018	12	12	0
Mar 2018	36	36	1
Apr 2018	56	56	0
May 2018	27	27	0
Jun 2018	20	20	0
Jul 2018	14	10	0
Aug 2018	13	9	3
Sep 2018	18	14	0
Oct 2018	29	29	1
Nov 2018	45	45	4
Dec 2018	45	43	1
Jan 2019	33	33	1
Feb 2019	21	21	2
Mar 2019	14	14	5
Apr 2019	5	5	2
May 2019	12	12	3
Jun 2019	4	4	2
Jul 2019	1	1	4
Aug 2019	0	1	2
Sep 2019	6	6	2
Oct 2019	5	5	2
Nov 2019	7	8	2
Dec 2019	13	13	2
Jan 2020	17	15	1
Feb 2020	7	7	3
Mar 2020	3	3	2
Apr 2020	10	8	1
May 2020	16	16	1
Jun 2020	11	11	3
Jul 2020	8	8	2
Aug 2020	20	20	2
Sep 2020	13	13	1
Oct 2020	8	8	3
Nov 2020	10	10	3
Dec 2020	9	9	2
Jan 2021	13	12	2
Feb 2021	7	7	4
Mar 2021	10	10	1
Apr 2021	2	2	1
May 2021	17	17	4
Jun 2021	21	21	3
Jul 2021	21	21	5
Aug 2021	33	33	5
Sep 2021	23	23	3
Oct 2021	27	24	15
Nov 2021	30	28	10
Dec 2021	41	43	6
Jan 2022	37	37	2
Feb 2022	59	59	1
Mar 2022	73	73	2
Apr 2022	85	85	1
May 2022	86	82	9
Jun 2022	92	91	4
Jul 2022	76	76	2
Aug 2022	85	85	2
Sep 2022	77	76	6
Oct 2022	33	33	10
Nov 2022	89	89	4
Dec 2022	65	63	0
Jan 2023	52	48	4
Feb 2023	86	84	2
Mar 2023	59	59	3
Apr 2023	70	68	3
May 2023	53	50	5
Jun 2023	55	55	0
Jul 2023	62	62	6
Aug 2023	56	55	5
Sep 2023	39	39	1
Oct 2023	37	36	2
Nov 2023	17	17	1
Dec 2023	88	1	0
Jan 2024	41	1	0
Feb 2024	20	0	0
Mar 2024	11	0	0
Total	3278	4272	676

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