scholarly journals 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 ◽  
1999 ◽  
Vol 122 (5) ◽  
pp. 817-825 ◽  
Author(s):  
S. M. Zuberi
Keyword(s):  
Potassium Channel ◽  
Novel Mutation ◽  
Partial Epilepsy ◽  
Episodic Ataxia ◽  
Voltage Gated ◽  
Channel Gene ◽  
Potassium Channel Gene ◽  
Episodic Ataxia Type

scholarly journals Gain-of-function mutation in the voltage-gated potassium channel gene KCNQ1 and glucose-stimulated hypoinsulinemia - case report

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Jinyi Zhang ◽  
Christian R. Juhl ◽  
Louise Hylten-Cavallius ◽  
Morten Salling-Olsen ◽  
Allan Linneberg ◽  
...  
Keyword(s):  
Case Report ◽  
Potassium Channel ◽  
Gain Of Function ◽  
Voltage Gated ◽  
Channel Gene ◽  
Potassium Channel Gene

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

scholarly journals Nerve excitability studies characterize KV1.1 fast potassium channel dysfunction in patients with episodic ataxia type 1

Brain ◽  
2010 ◽  
Vol 133 (12) ◽  
pp. 3530-3540 ◽  
Author(s):  
Susan E. Tomlinson ◽  
S. Veronica Tan ◽  
Dimitri M. Kullmann ◽  
Robert C. Griggs ◽  
David Burke ◽  
...  
Keyword(s):  
Potassium Channel ◽  
Episodic Ataxia ◽  
Nerve Excitability ◽  
Episodic Ataxia Type

scholarly journals Mechanism of Accelerated Current Decay Caused by an Episodic Ataxia Type-1-Associated Mutant in a Potassium Channel Pore

2011 ◽  
Vol 31 (48) ◽  
pp. 17449-17459 ◽  
Author(s):  
C. J. Peters ◽  
D. Werry ◽  
H. S. Gill ◽  
E. A. Accili ◽  
D. Fedida
Keyword(s):  
Potassium Channel ◽  
Episodic Ataxia ◽  
Channel Pore ◽  
Current Decay ◽  
Episodic Ataxia Type

A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome

1997 ◽  
Vol 15 (2) ◽  
pp. 186-189 ◽  
Author(s):  
Nathalie Neyroud ◽  
Frédérique Tesson ◽  
Isabelle Denjoy ◽  
Michel Leibovici ◽  
Claire Donger ◽  
...  
Keyword(s):  
Potassium Channel ◽  
Novel Mutation ◽  
Channel Gene ◽  
Potassium Channel Gene

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

scholarly journals Episodic Ataxia Type-1 Mutations in the Kv1.1 Potassium Channel Display Distinct Folding and Intracellular Trafficking Properties

2001 ◽  
Vol 276 (52) ◽  
pp. 49427-49434 ◽  
Author(s):  
Louis N. Manganas ◽  
Sobia Akhtar ◽  
Dana E. Antonucci ◽  
Claire R. Campomanes ◽  
J. Oliver Dolly ◽  
...  
Keyword(s):  
Potassium Channel ◽  
Intracellular Trafficking ◽  
Episodic Ataxia ◽  
Episodic Ataxia Type

scholarly journals An episodic ataxia type-1 mutation in the S1 segment sensitises the hKv1.1 potassium channel to extracellular Zn2+

FEBS Letters ◽  
2004 ◽  
Vol 576 (1-2) ◽  
pp. 237-244 ◽  
Author(s):  
Antonella Cusimano ◽  
Maria Cristina D'Adamo ◽  
Mauro Pessia
Keyword(s):  
Potassium Channel ◽  
Episodic Ataxia ◽  
Episodic Ataxia Type
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