original ) (raw )Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability
Patrizia Avoni
Annals of Neurology, 2000
View PDFchevron_right
A novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1
Maria Cristina D'Adamo
Neuroscience, 2008
View PDFchevron_right
A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy
Alexander Spauschus
Brain, 1999
View PDFchevron_right
A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions
Maria Cristina D'Adamo
Molecular and cellular neurosciences, 2017
View PDFchevron_right
Mutations in the KCNA1 gene associated with episodic ataxia type-1 syndrome impair heteromeric voltage-gated K(+) channel function
Maria Cristina D'Adamo
FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 1999
View PDFchevron_right
Episodic ataxia type 1 mutations in the KCNA1 gene impair the fast inactivation properties of the human potassium channels Kv1.4-1.1/Kvβ1.1 and Kv1.4-1.1/Kvβ1.2
Maria Cristina D'Adamo
European Journal of Neuroscience, 2006
View PDFchevron_right
A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome
ruth shomrat
Journal of Neurology, 2012
View PDFchevron_right
Musculoskeletal Features without Ataxia Associated with a Novel de novo Mutation in KCNA1 Impairing the Voltage Sensitivity of Kv1.1 Channel
Maria Cristina D'Adamo
Biomedicines
View PDFchevron_right
Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q
Tena Varvil
American journal of human genetics, 1996
View PDFchevron_right
Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3—a subgroup of K+ channelopathies
Germaine Pierre
European Journal of Human Genetics
View PDFchevron_right
Functional characterization of an episodic ataxia type-1 mutation occurring in the S1 segment of hKv1.1 channels
Maria Cristina D'Adamo
Pflügers Archiv : European journal of physiology, 2003
View PDFchevron_right
Localization of Two Potassium Channel β Subunit Genes, KCNA1B and KCNA2B
Mathew Thayer
Genomics, 1996
View PDFchevron_right
Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia
Haijun Chen , Leonard Kaczmarek
Neurogenetics, 2007
View PDFchevron_right
Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene
Stephen Tucker , Larissa Arning , Giuseppe Di Giovanni
Frontiers in physiology, 2014
View PDFchevron_right
Homozygous KCNMA1 mutation as a cause of cerebellar atrophy, developmental delay and seizures
Brahim Tabarki
Human Genetics, 2016
View PDFchevron_right
University of Groningen Mutations in Potassium Channel KCND 3 Cause Spinocerebellar Ataxia Type 19
Gerard Hageman
2012
View PDFchevron_right
Cervical dystonia with cerebellar ataxia in KCNA1 mutation: A phenotypic expansion
Pooja Kiran
Annals of Indian Academy of Neurology, 2022
View PDFchevron_right
A recurrent mutation inKCNA2as a novel cause of hereditary spastic paraplegia and ataxia
Sarah Dugan
Annals of Neurology, 2016
View PDFchevron_right
First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy
Berten Ceulemans
BMC Medical Genetics, 2015
View PDFchevron_right
A Common Kinetic Property of Mutations Linked to Episodic Ataxia Type 1 Studied in the Shaker Kv Channel
Georges Anthony Haddad
International Journal of Molecular Sciences, 2020
View PDFchevron_right
Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders
Sarah Weckhuysen
Brain, 2020
View PDFchevron_right
Identification of a New de Novo Mutation Underlying Regressive Episodic Ataxia Type I
Birce Taskin
Frontiers in Neurology, 2018
View PDFchevron_right
Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19
H. Kremer
Annals of Neurology, 2012
View PDFchevron_right
Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K(+) channel properties
Zaid Afawi
Annals of neurology, 2017
View PDFchevron_right
Frequency of KCNC3 DNA Variants as Causes of Spinocerebellar Ataxia 13 (SCA13)
Christopher Gomez
PLoS ONE, 2011
View PDFchevron_right
Progressive Ataxia Due to a Missense Mutation in a Calcium-Channel Gene
Qing Yue
The American Journal of Human Genetics, 1997
View PDFchevron_right
Novel KCND3 Variant Underlying Nonprogressive Congenital Ataxia or SCA19/22 Disrupt KV4.3 Protein Expression and K+ Currents with Variable Effects on Channel Properties
Chung-Jiuan Jeng
International Journal of Molecular Sciences, 2021
View PDFchevron_right