Episodic ataxias;Episodiske ataksier

Tidsskrift for den Norske Laegeforening

Volumn 125, Issue 15, 2005, Pages 2005-2007

  Herrmann, Antje ^a   Braathen, Geir J ^a,b   Russell, Michael Bjørn ^a,b  

^a AKERSHUS UNIVERSITY HOSPITAL   (Norway)

^b UNIVERSITY OF OSLO   (Norway)

Author keywords

[No Author keywords available]

Indexed keywords

ACETAZOLAMIDE; POTASSIUM CHANNEL; POTASSIUM CHANNEL KV1.1; CACNA1A PROTEIN, HUMAN; CALCIUM CHANNEL; KCNA1 PROTEIN, HUMAN; VOLTAGE GATED POTASSIUM CHANNEL;

ALLELE; AUTOSOMAL DOMINANT DISORDER; CALCIUM CHANNEL CACNA1A; CALCIUM CHANNEL CACNB4; CALCIUM CHANNEL CACNB4BETA4; CHROMOSOME 12P; CHROMOSOME 19P; CHROMOSOME 2Q; CLINICAL FEATURE; FAMILIAL DISEASE; FAMILIAL HEMIPLEGIC MIGRAINE; FOCAL EPILEPSY; GENE LOCUS; GENE MUTATION; GENERALIZED EPILEPSY; GENETIC HETEROGENEITY; GENETIC LINKAGE; HEREDITARY ATAXIA; HUMAN; MYOCLONUS EPILEPSY; MYOKYMIA; PHENOTYPE; RARE DISEASE; REVIEW; SPINOCEREBELLAR DEGENERATION; ADOLESCENT; ADULT; CEREBELLAR ATAXIA; GENETICS; MUTATION; PRESCHOOL CHILD;

ADOLESCENT; ADULT; CALCIUM CHANNELS; CEREBELLAR ATAXIA; CHILD, PRESCHOOL; HUMANS; KV1.1 POTASSIUM CHANNEL; MUTATION; POTASSIUM CHANNELS; POTASSIUM CHANNELS, VOLTAGE-GATED;

EID: 23844485573     PISSN: 00292001     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (21)

1. Kullmann DM, Hanna MG. Neurological disorders caused by inherited ion-channel mutation. Lancet Neurology 2002; 1: 157-66.
2. Ophoff RA, Terwindt GM, Vergouwe MN et al. Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. Cell 1996; 87: 543-52.
3. Tallaksen CM, Dietrichs E. Genetikk ved bevegelsesforstyrrelser - spinocerebellaere lidelser. Tidsskr Nor Lægeforen 2004; 124: 2233-5.
4. Julien J, Denier C, Ferrer X et al. Sporadic late onset paroxysmal cerebellar ataxia in four unrelated patients: a new disease? J Neurol 2001; 248: 209-14.
5. PubMed www.ncbi.nlm.nih.gov/entrez/query.fcgi (15.10.2004).
6. Dietrichs E, Tallaksen CM. Genetikk ved bevegelsesforstyrrelser - dystoni, tremor og chorea. Tidsskr Nor Lægeforen 2004; 124: 2236-7.
7. Browne DL, Gancher ST, Nutt JG et al. Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. Nat Genet 1994; 8: 136-40.
8. Comu S, Giuliani M, Narayanan V. Episodic ataxia and myokymia syndrome: a new mutation of potassium channel gene Kv1.1. Ann Neurol 1996; 40: 684-7.
9. Eunson LH, Rea R, Zuberi SM et al. Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability. Ann Neurol 2000; 48: 647-56.
10. Jen J, Kim GW, Baloh RW. Clinical spectrum of episodic ataxia type 2. Neurology 2004; 62: 17-22.
11. Damji KF, Allingham RR, Pollock SC et al. Periodic vestibulocerebellar ataxia, an autosomal dominant ataxia with defective smooth pursuit, is genetically distinct from other autosomal dominant ataxias. Arch Neurol 1996; 53: 338-44.
12. Steckley JL, Ebers GC, Cader MZ et al. An autosomal dominant disorder with episodic ataxia, vertigo, and tinnitus. Neurology 2001; 57: 1499-502.
13. Escayg A, De Waard M, Lee DD et al. Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. Am J Hum Genet 2000; 66: 1531-9.
14. Baloh RW, Jen JC. Genetics of familial episodic vertigo and ataxia. Ann N Y Acad Sci 2002; 956: 338-45.
15. Kullmann DM, Rea R, Spauschub A et al. The inherited episodic ataxias: How well do we understand the disease mechanisms? Neuroscientist 2001; 7: 80-8.
16. Zhang CL, Messing A, Chiu SY. Specific alteration of spontaneous GABAergic inhibition in cerebellar Purkinje cells in mice lacking the potassium channel Kv1.1. J Neurosci 1999; 19: 2852-64.
17. Zhou L, Zhang CL, Messing A et al. Temperature-sensitive neuromuscular transmission in Kv1.1 null mice: a role of potassium channels under the myelin sheath in young nerves. J Neurosci 1998; 18: 7000-15.
18. Denier C, Ducros A, Durr A et al. Missense CACNA1A mutation causing episodic ataxia type 2. Arch Neurol 2001; 58: 292-5.
19. Zhuchenko O, Bailey J, Bonnen P et al. Autosomal dominant cerebellar ataxia (SCA 6) associated with small polyglutamine expansions in the alpha 1 A-voltage-dependent calcium channel. Nat Genet 1997; 15: 62-9.
20. Yue Q, Jen JC, Nelson SF et al. Progressive ataxia due to a missense mutation in a calcium channel gene. Am J Hum Genet 1997; 61: 1078-87.
21. Strupp M, Kalla R, Dichgans M et al. Treatment of episodic ataxia type 2 with the potassium channel blocker 4-aminopyridine. Neurology 2004; 62: 1623-5.