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Items: 1 to 20 of 50

1.

Episodic Ataxia Type 2.

Spacey S.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2003 Feb 24 [updated 2015 Oct 15].

2.

ATP1A3-Related Neurologic Disorders.

Brashear A, Sweadner KJ, Cook JF, Swoboda KJ, Ozelius L.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2008 Feb 7 [updated 2018 Feb 22].

3.

Hypokalemic Periodic Paralysis.

Vicart S, Sternberg D, Arzel-Hézode M, Franques J, Bendahhou S, Lory P, Hainque B, Fournier E, Nicole S, Fontaine B.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2002 Apr 30 [updated 2014 Jul 31].

4.

Episodic Ataxia Type 1.

D’Adamo MC.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2010 Feb 9 [updated 2015 Jun 25].

5.

Familial Paroxysmal Kinesigenic Dyskinesia.

Spacey S, Adams P.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2005 Jun 24 [updated 2013 Jun 27].

6.

[Hereditary episodic ataxia].

Riant F, Vahedi K, Tournier-Lasserve E.

Rev Neurol (Paris). 2011 May;167(5):401-7. doi: 10.1016/j.neurol.2010.10.016. Epub 2011 Apr 13. Review. French.

PMID:
21492892
7.

Hyperkalemic Periodic Paralysis.

Weber F, Jurkat-Rott K, Lehmann-Horn F.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2003 Jul 18 [updated 2016 Jan 28].

8.

Familial Hemiplegic Migraine.

Jen JC.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2001 Jul 17 [updated 2015 May 14].

9.

Spinocerebellar Ataxia Type 6.

Gomez CM.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
1998 Oct 23 [updated 2013 Jul 18].

10.

POLG-Related Disorders.

Cohen BH, Chinnery PF, Copeland WC.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2010 Mar 16 [updated 2018 Mar 1].

11.

Hereditary Coproporphyria.

Bissell DM, Wang B, Lai J.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2012 Dec 13 [updated 2015 Jul 1].

12.

Exercise-induced downbeat nystagmus in a Korean family with a nonsense mutation in CACNA1A.

Choi JH, Seo JD, Choi YR, Kim MJ, Shin JH, Kim JS, Choi KD.

Neurol Sci. 2015 Aug;36(8):1393-6. doi: 10.1007/s10072-015-2157-6. Epub 2015 Mar 18.

PMID:
25784583
13.

Familial Paroxysmal Nonkinesigenic Dyskinesia.

Spacey S, Adams P.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2005 Jun 24 [updated 2011 May 3].

14.

Novel frameshift mutation in the CACNA1A gene causing a mixed phenotype of episodic ataxia and familiar hemiplegic migraine.

Kinder S, Ossig C, Wienecke M, Beyer A, von der Hagen M, Storch A, Smitka M.

Eur J Paediatr Neurol. 2015 Jan;19(1):72-4. doi: 10.1016/j.ejpn.2014.10.005. Epub 2014 Nov 3.

PMID:
25468264
15.

Andersen-Tawil Syndrome.

Statland JM, Tawil R, Venance SL.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2004 Nov 22 [updated 2015 Sep 3].

16.

Familial Episodic Ataxias and Related Ion Channel Disorders.

Jen J.

Curr Treat Options Neurol. 2000 Sep;2(5):429-431.

PMID:
11096768
17.

Functional implications of a novel EA2 mutation in the P/Q-type calcium channel.

Spacey SD, Hildebrand ME, Materek LA, Bird TD, Snutch TP.

Ann Neurol. 2004 Aug;56(2):213-20.

PMID:
15293273
18.

Episodic ataxia type 2: unusual aspects in clinical and genetic presentation. Special emphasis in childhood.

Bertholon P, Chabrier S, Riant F, Tournier-Lasserve E, Peyron R.

J Neurol Neurosurg Psychiatry. 2009 Nov;80(11):1289-92. doi: 10.1136/jnnp.2008.159103.

PMID:
19864665
19.

RRM2B-Related Mitochondrial Disease.

Gorman GS, Taylor RW.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2014 Apr 17.

20.

Spinocerebellar Ataxia Type 28.

Brussino A, Brusco A, Durr A, Mancini C.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2011 May 17 [updated 2018 Mar 22].

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