Genetics of familial episodic vertigo and ataxia

Annals of the New York Academy of Sciences

Volumn 956, Issue , 2002, Pages 338-345

  Baloh, Robert W ^a,b   Jen, Joanna C ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b Box 951769 ^*  (United States)

Author keywords

Calcium channel; Channelopathy; Migraine; Mutations

Indexed keywords

ACETAZOLAMIDE; CALCIUM CHANNEL; POTASSIUM CHANNEL;

ATAXIA; AUTOSOMAL DOMINANT DISORDER; BENIGN RECURRENT VERTIGO; CONFERENCE PAPER; DRUG EFFICACY; FAMILIAL DISEASE; GENETIC DISORDER; HUMAN; MIGRAINE; MISSENSE MUTATION; VERTIGO;

ATAXIA;

EID: 0036234821     PISSN: 00778923     EISSN: None     Source Type: Book Series    
DOI: 10.1111/j.1749-6632.2002.tb02832.x     Document Type: Conference Paper

References (29)

1. A gene for episodic ataxia/myokymia maps to chromosome 12p13
2. Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1
3. A locus for the nystagmus-associated form of episodic ataxia maps to an 11-cM region on chromosome 19p
4. A gene for hereditary paroxysmal cerebellar ataxia maps to chromosome 19p
5. 2+ channel gene CACNA1A
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7. Benign recurrent vertigo
8. Familial benign recurrent vertigo
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12. Hereditary paroxysmal ataxia response to acetazolamide
13. Familial vestibulopathy: A new dominantly inherited syndrome
14. + channel complexes
15. Temperature-sensitive neuromuscular transmission in Kv1.1 null mice: Role of potassium channels under the myelin sheath in young nerves
16. Expression in mammalian cells and electrophysiological characterization of two mutant Kv1.1 channels causing episodic ataxia type 1 (EA-1)
17. Primary structure and functional expression from complementary DNA of a brain calcium channel
18. Calcium channelopathies in the central nervous system
19. Progressive ataxia due to a missense mutation in a calcium-channel gene
20. De novo mutation in CACNA1A caused acetazolamide-responsive episodic ataxia
21. High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2
22. A novel nonsense mutation in CACNA1A causes episodic ataxia and hemiplegia
23. Familial migraine with vertigo: No mutations found in CACNA1A
24. Acetazolamide-responsive episodic ataxia syndrome
25. A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy
26. Hereditary paroxysmal ataxia: Response to acetazolamide
27. Hereditary myokymia and paroxysmal ataxia linked to chromosome 12 is responsive to acetazolamide
28. Familial periodic cerebellar ataxia: A problem of molecular pH homeostasis
29. Familial periodic ataxia responsive to flunarizine