Associated Papers
The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.
Pang N et al.
Bmc Medicine, 2025
Clinical and Functional Study of a De Novo Variant in the PVP Motif of Kv1.1 Channel Associated with Epilepsy, Developmental Delay and Ataxia.
Dinoi G et al.
International Journal of Molecular Sciences, 2022
Interictal Headache, Pseudodystonia, and Persistent Ataxia in Episodic Ataxia Type 1 Due to a Novel KCNA1 Gene Mutation.
Bhattacharjee S et al.
Movement Disorders Clinical Practice, 2022
Case report: A novel loss-of-function pathogenic variant in the KCNA1 cytoplasmic N-terminus causing carbamazepine-responsive type 1 episodic ataxia.
Manville RW et al.
Frontiers in Neurology, 2022
Therapeutic Potential of Sodium Channel Blockers as a Targeted Therapy Approach in KCNA1-Associated Episodic Ataxia and a Comprehensive Review of the Literature.
Lauxmann S et al.
Frontiers in Neurology, 2021
A Common Kinetic Property of Mutations Linked to Episodic Ataxia Type 1 Studied in the Shaker Kv Channel.
Zhao J et al.
International Journal of Molecular Sciences, 2020
Two novel KCNA1 variants identified in two unrelated Chinese families affected by episodic ataxia type 1 and neurodevelopmental disorders.
Yuan H et al.
Molecular Genetics & Genomic Medicine, 2020
Kv1.1 Channelopathies: Pathophysiological Mechanisms and Therapeutic Approaches.
D'Adamo MC et al.
International Journal of Molecular Sciences, 2020
Clinical Spectrum of KCNA1 Mutations: New Insights into Episodic Ataxia and Epilepsy Comorbidity.
Paulhus K et al.
International Journal of Molecular Sciences, 2020
De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants.
Rogers A et al.
American Journal of Medical Genetics. Part A, 2018
Scn2a deletion improves survival and brain-heart dynamics in the Kcna1-null mouse model of sudden unexpected death in epilepsy (SUDEP).
Mishra V et al.
Human Molecular Genetics, 2017
Episodic ataxia type 1: clinical characterization, quality of life and genotype-phenotype correlation.
Graves TD et al.
Brain : a Journal of Neurology, 2014
Mechanism of accelerated current decay caused by an episodic ataxia type-1-associated mutant in a potassium channel pore.
Peters CJ et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2011
A novel KCNA1 mutation associated with global delay and persistent cerebellar dysfunction.
Demos MK et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2009
Cervical Dystonia with Cerebellar Ataxia in KCNA1 Mutation: A Phenotypic Expansion.
Mahale RR et al.
Annals of Indian Academy of Neurology, 0