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An epilepsy-causing mutation leads to co-translational misfolding of the Kv7.2 channel
Janire Urrutia
, Alejandra Aguado
, Carolina Gomis-Perez
, Arantza Muguruza-Montero
, Oscar R. Ballesteros
, Jiaren Zhang
, Eider Nuñez
, Covadonga Malo
,
Hee Jung Chung
, Aritz Leonardo
, Aitor Bergara
, Alvaro Villarroel
Molecular and Integrative Physiology
Beckman Institute for Advanced Science and Technology
Neuroscience Program
Research output
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Contribution to journal
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Article
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peer-review
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Keyphrases
Amino Acid Sequence
25%
Calmodulin
75%
Channel Function
50%
Co-translational
100%
Complex Structure
25%
Disease-associated
25%
Epilepsy
100%
Helix
25%
Human Disease
25%
Human Epilepsy
25%
In Cellulo
25%
In Silico Study
25%
In Vitro Binding
25%
Inherited mutation
25%
Ion Channels
25%
IQ Motif
25%
KCNQ2 mutation
25%
Kv7.2
100%
Misfolding
100%
Molecular Dynamics Simulation
25%
Mutant Protein
25%
Nascent Chain
25%
Native Conformation
25%
Neuronal Compartments
25%
Non-native
25%
Pathogenic Mechanism
25%
Pathogenic Variants
25%
Side Chain
25%
Structural Degradation
25%
Structural Instability
25%
Biochemistry, Genetics and Molecular Biology
Calmodulin
100%
Conformation
33%
In Silico Study
33%
Inherited Mutation
33%
Ion Channel
33%
Peptide Sequence
33%