A novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1

Neuroscience

Volumn 157, Issue 3, 2008, Pages 577-587

  Imbrici, P ^c   Gualandi, F ^a   D'Adamo, M C ^c   Masieri, M Taddei ^a   Cudia, P ^b   De Grandis, D ^b   Mannucci, R ^c   Nicoletti, I ^c   Tucker, S J ^d   Ferlini, A ^a   Pessia, M ^c  

^a UNIVERSITY OF FERRARA   (Italy)

^b Hospital of Rovigo   (Italy)

^c UNIVERSITY OF PERUGIA   (Italy)

^d UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

confocal microscopy; episodic ataxia; ion channel gene defects; Kv1.1; Kv1.2 cerebellum; Xenopus oocytes

Indexed keywords

ACETAZOLAMIDE; CLONAZEPAM; POTASSIUM CHANNEL KV1.1; POTASSIUM CHANNEL KV1.2;

ANAMNESIS; ANIMAL EXPERIMENT; ARTICLE; ATAXIA; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; EPISODIC ATAXIA TYPE 1; GENE EXPRESSION; GENE IDENTIFICATION; HUMAN; ITALY; MALE; MISSENSE MUTATION; NONHUMAN; PRIORITY JOURNAL; PROTEIN ANALYSIS; XENOPUS LAEVIS;

ADULT; ANIMALS; ATAXIA; BIOPHYSICAL PROCESSES; CHROMOSOMES, HUMAN, PAIR 12; CYSTEINE; DNA MUTATIONAL ANALYSIS; ELECTRIC STIMULATION; FAMILY HEALTH; GREEN FLUORESCENT PROTEINS; HUMANS; ITALY; KV1.1 POTASSIUM CHANNEL; KV1.2 POTASSIUM CHANNEL; MALE; MEMBRANE POTENTIALS; MICROINJECTIONS; MODELS, MOLECULAR; MUTATION, MISSENSE; MYOKYMIA; OOCYTES; PATCH-CLAMP TECHNIQUES; PHENYLALANINE; XENOPUS LAEVIS; XENOPUS PROTEINS; YOUNG ADULT;

EID: 56049119594     PISSN: 03064522     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.neuroscience.2008.09.022     Document Type: Article

References (31)

1. Adelman J.P., Bond C.T., Pessia M., and Maylie J. Episodic ataxia results from voltage-dependent potassium channels with altered functions. Neuron 15 (1995) 1449-1454
2. Aldrich Jr. R.W., Getting P.A., and Thompson S.H. Inactivation of delayed outward current in molluscan neurone somata. J Physiol 291 (1979) 507-530
3. Browne D.L., Gancher S.T., Nutt J.G., Brunt E.R., Smith E.A., Kramer P., and Litt M. Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. Nat Genet 8 (1994) 136-140
4. Browne D.L., Brunt E.R., Griggs R.C., Nutt J.G., Gancher S.T., Smith E.A., and Litt M. Identification of two new KCNA1 mutations in episodic ataxia/myokymia families. Hum Mol Genet 4 (1995) 1671-1672
5. Brunt E.R.P., and van Weerden T.W. Familial paroxysmal kinesigenic ataxia and continuous myokymia. Brain 113 (1990) 1361-1382
6. Comu S., Giuliani M., and Narayanan V. Episodic ataxia and myokymia syndrome: a new mutation of potassium channel gene Kv1.1. Ann Neurol 40 (1996) 684-687
7. 2+. FEBS Lett 576 (2004) 237-244
8. D'Adamo M.C., Imbrici P., Sponcichetti F., and Pessia M. Mutations in the KCNA1 gene associated with episodic ataxia type-1 syndrome impair heteromeric voltage-gated K(+) channel function. FASEB J 13 (1999) 1335-1345
9. D'Adamo M.C., Liu Z., Adelman J.P., Maylie J., and Pessia M. Episodic ataxia type-1 mutations in the hKv1.1 cytoplasmic pore region alter the gating properties of the channel. EMBO J 17 (1998) 1200-1207
10. Eunson L.H., Rea R., Zuberi S.M., Youroukos S., Panayiotopoulos C.P., Liguori R., Avoni P., McWilliam R.C., Stephenson J.B., Hanna M.G., Kullmann D.M., and Spauschus A. Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability. Ann Neurol 48 (2000) 647-656
11. Gancher S.T., and Nutt J.G. Autosomal dominant episodic ataxia: a heterogeneous syndrome. Mov Disord 1 (1986) 239-253
12. Herson P.S., Virk M., Rustay N.R., Bond C.T., Crabbe J.C., Adelman J.P., and Maylie J. A mouse model of episodic ataxia type-1. Nat Neurosci 6 (2003) 378-383
13. Imbrici P., Cusimano A., D'Adamo M.C., De Curtis A., and Pessia M. Functional characterization of an episodic ataxia type-1 mutation occurring in the S1 segment of hKv1.1 channels. Pflugers Arch 446 (2003) 373-379
14. + channel Kv1.4-Kv1.1/Kvbeta1.1. Am J Physiol Cell Physiol 292 (2007) C778-C787
15. Ito M. The cerebellum and neural control (1984), Raven, New York
16. Kavanaugh M.P., Hurst R.S., Yakel J., Varnum M.D., Adelman J.P., and North R.A. Multiple subunits of a voltage-dependent potassium channel contribute to the binding site for tetraethylammonium. Neuron 8 (1992) 493-497
17. Kinali M., Jungbluth H., Eunson L.H., Sewry C.A., Manzur A.Y., Mercuri E., Hanna M.G., and Muntoni F. Expanding the phenotype of potassium channelopathy: severe neuromyotonia and skeletal deformities without prominent episodic ataxia. Neuromuscul Disord 14 (2004) 689-693
18. Klein A., Boltshauser E., Jen J., and Baloh R.W. Episodic ataxia type 1 with distal weakness: a novel manifestation of a potassium channelopathy. Neuropediatrics 35 (2004) 147-149
19. Kullmann D.M., Rea R., Spauschus A., and Jouvenceau A. The inherited episodic ataxias: how well do we understand the disease mechanisms?. Neuroscientist 7 (2001) 80-88
20. Lee H., Wang H., Jen J.C., Sabatti C., Baloh R.W., and Nelson S.F. A novel mutation in KCNA1 causes episodic ataxia without myokymia. Hum Mutat 24 (2004) 536-542
21. Litt M., Kramer P., Browne D., Gancher S., Brunt E.R., Root D., Phromchotikul T., Dubay C.J., and Nutt J. A gene for episodic ataxia/myokymia maps to chromosome 12p13. Am J Hum Genet 55 (1994) 702-709
22. Maylie B., Bissonnette E., Virk M., Adelman J.P., and Maylie J.G. Episodic ataxia type 1 mutations in the human Kv1.1 potassium channel alter hKvbeta 1-induced N-type inactivation. J Neurosci 22 (2002) 4786-4793
23. Rajakulendran S., Schorge S., Kullmann D.M., and Hanna M.G. Episodic ataxia type 1: a neuronal potassium channelopathy. Neurotherapeutics 2 (2007) 258-266
24. + channel subunit dysfunction in inherited mutations of KCNA1. J Physiol 538 (2002) 5-23
25. Scheffer H., Brunt E.R., Mol G.J., van der Vlies P., Stulp R.P., Verlind E., Mantel G., Averyanov Y.N., Hofstra R.M., and Buys C.H. Three novel KCNA1 mutations in episodic ataxia type I families [published erratum appears in Hum Genet 1998, 102, 713]. Hum Genet 102 (1998) 464-466
26. Shook S.J., Mamsa H., Jen J.C., Baloh R.W., and Zhou L. Novel mutation in KCNA1 causes episodic ataxia with paroxysmal dyspnea. Muscle Nerve 37 (2008) 399-402
27. Southan A.P., and Robertson B. Patch-clamp recordings form cerebellar basket cell bodies and their presynaptic terminals reveal an asymmetric distribution of voltage-gated potassium channels. J Neurosci 18 (1998) 948-955
28. Van Dyke D.H., Griggs R.C., Murphy M.J., and Goldstein M.N. Hereditary myokymia and periodic ataxia. J Neurol Sci 25 (1975) 109-118
29. + channels in terminal and juxtaparanodal regions of neurons. Nature 365 (1993) 75-79
30. Zerr P., Adelman J.P., and Maylie J. Episodic ataxia mutations in Kv1.1 alter potassium channel function by dominant negative effects or haploinsufficiency. J Neurosci 18 (1998) 2842-2848
31. Zuberi S.M., Eunson L.H., Spauschus A., De Silva R., Tolmie J., Wood N.W., McWilliam R.C., Stephenson J.P., Kullmann D.M., and Hanna M.G. A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy. Brain 122 (1999) 817-825