G.P.18.09 Functional characterisation of a novel mutation causing episodic ataxia type 1 occurring in the KCNA1 gene

2007 ◽  
Vol 17 (9-10) ◽  
pp. 892-893
Author(s):  
P. Imbrici ◽  
F. Gualandi ◽  
M. D’Adamo ◽  
P. Cudia ◽  
D. De Grandis ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Episodic Ataxia ◽  
Functional Characterisation ◽  
Episodic Ataxia Type

Functional Characterization of a Novel Mutation in KCNA1 in Episodic Ataxia Type 1 Associated with Epilepsy

1999 ◽  
Vol 868 (1 MOLECULAR AND) ◽  
pp. 442-446 ◽  
Author(s):  
ALEXANDER SPAUSCHUS ◽  
LOUISE EUNSON ◽  
MICHAEL G. HANNA ◽  
DIMITRI M. KULLMANN
Keyword(s):  
Novel Mutation ◽  
Functional Characterization ◽  
Episodic Ataxia ◽  
Episodic Ataxia Type

A NOVEL KCNA1 MUTATION CAUSES EPISODIC ATAXIA TYPE 1 WITH PERSISTENT CEREBELLAR DEFICITS

2006 ◽  
Vol 37 (S 1) ◽  
Author(s):  
M Demos ◽  
K Farrell ◽  
T Nelson ◽  
K Chapman ◽  
L Armstrong
Keyword(s):  
Episodic Ataxia ◽  
Episodic Ataxia Type

scholarly journals A Novel KCNA1 Mutation in an Episodic Ataxia Type 1 Patient with Asterixis and Falls

2021 ◽  
Vol 17 (2) ◽  
pp. 333
Author(s):  
Geum Bong Lee ◽  
Ga Yeon Kim ◽  
In Hwa Jeong ◽  
Namhee Kim ◽  
Jae Woo Kim
Keyword(s):  
Episodic Ataxia ◽  
Episodic Ataxia Type

scholarly journals Episodic Ataxia Type 1 (K-channelopathy) Manifesting as Paroxysmal Nonkinesogenic Dyskinesia: Expanding the Phenotype

2017 ◽  
Vol 4 (5) ◽  
pp. 784-786 ◽  
Author(s):  
Kallol K. Set ◽  
Debabrata Ghosh ◽  
A.H.M. Huq ◽  
Aimee F. Luat
Keyword(s):  
Episodic Ataxia ◽  
Episodic Ataxia Type

scholarly journals A Common Kinetic Property of Mutations Linked to Episodic Ataxia Type 1 Studied in the Shaker Kv Channel

2020 ◽  
Vol 21 (20) ◽  
pp. 7602
Author(s):  
Juan Zhao ◽  
Dimitri Petitjean ◽  
Georges A. Haddad ◽  
Zarah Batulan ◽  
Rikard Blunck
Keyword(s):  
Kinetic Property ◽  
Ionic Currents ◽  
Episodic Ataxia ◽  
Gene Encoding ◽  
Kv Channel ◽  
Kv Channels ◽  
Disease Mutations ◽  
The Common ◽  
Episodic Ataxia Type

(1) Background: Episodic ataxia type 1 is caused by mutations in the KCNA1 gene encoding for the voltage-gated potassium channel Kv1.1. There have been many mutations in Kv1.1 linked to episodic ataxia reported and typically investigated by themselves or in small groups. The aim of this article is to determine whether we can define a functional parameter common to all Kv1.1 mutants that have been linked to episodic ataxia. (2) Methods: We introduced the disease mutations linked to episodic ataxia in the drosophila analog of Kv1.1, the Shaker Kv channel, and expressed the channels in Xenopus oocytes. Using the cut-open oocyte technique, we characterized the gating and ionic currents. (3) Results: We found that the episodic ataxia mutations variably altered the different gating mechanisms described for Kv channels. The common characteristic was a conductance voltage relationship and inactivation shifted to less polarized potentials. (4) Conclusions: We suggest that a combination of a prolonged action potential and slowed and incomplete inactivation leads to development of ataxia when Kv channels cannot follow or adapt to high firing rates.

Episodic Ataxia Type 1: Characterization of the Disease and Its Effect on Quality of Life (S12.005)

Neurology ◽  
2012 ◽  
Vol 78 (Meeting Abstracts 1) ◽  
pp. S12.005-S12.005
Author(s):  
T. Graves ◽  
Y.-H. Cha ◽  
A. Hahn ◽  
R. Barohn ◽  
A. Amato ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Episodic Ataxia ◽  
Episodic Ataxia Type

scholarly journals Episodic ataxia type 1: A neuronal potassium channelopathy

2007 ◽  
Vol 4 (2) ◽  
pp. 258-266 ◽  
Author(s):  
Sanjeev Rajakulendran ◽  
Stephanie Schorge ◽  
Dimitri M. Kullmann ◽  
Michael G. Hanna
Keyword(s):  
Episodic Ataxia ◽  
Episodic Ataxia Type
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