Associated Papers
A novel early onset spinocerebellar ataxia 13 BAC mouse model with cerebellar atrophy, tremor, and ataxic gait.
Yin J et al.
Experimental Animals, 2025
The natural history of progressive myoclonus ataxia.
van der Veen S et al.
Neurobiology of Disease, 2024
A novel KCNC3 gene variant in the voltage-dependent Kv3.3 channel in an atypical form of SCA13 with dominant central vertigo.
Bernhard FP et al.
Frontiers in Cellular Neuroscience, 2024
Epilepsy as the symptom of a spinocerebellar ataxia 13 in a patient presenting with a mutation in the KCNC3 gene.
Li S et al.
Bmc Neurology, 2023
Spinocerebellar ataxias (SCAs) caused by common mutations.
Müller U
Neurogenetics, 2021
Zebrafish Models of Autosomal Dominant Ataxias.
Quelle-Regaldie A et al.
Cells, 2021
Infant and adult SCA13 mutations differentially affect Purkinje cell excitability, maturation, and viability in vivo.
Hsieh JY et al.
Elife, 2020
Genetic screening for potassium channel mutations in Japanese autosomal dominant spinocerebellar ataxia.
Tada Y et al.
Journal of Human Genetics, 2020
C-terminal proline deletions in KCNC3 cause delayed channel inactivation and an adult-onset progressive SCA13 with spasticity.
Khare S et al.
Cerebellum (london, England), 2018
Roles of Post-translational Modifications in Spinocerebellar Ataxias.
Wan L et al.
Frontiers in Cellular Neuroscience, 2018
SCA13 causes dominantly inherited non-progressive myoclonus ataxia.
Montaut S et al.
Parkinsonism & Related Disorders, 2017
Using the shared genetics of dystonia and ataxia to unravel their pathogenesis.
Nibbeling EA et al.
Neuroscience and Biobehavioral Reviews, 2017
A KCNC3 mutation causes a neurodevelopmental, non-progressive SCA13 subtype associated with dominant negative effects and aberrant EGFR trafficking.
Khare S et al.
Plos One, 2017
Spinocerebellar ataxia: relationship between phenotype and genotype - a review.
Sun YM et al.
Clinical Genetics, 2016
Kv3.3 potassium channels and spinocerebellar ataxia.
Zhang Y et al.
The Journal of Physiology, 2016
Cerebellar ataxias: β-III spectrin's interactions suggest common pathogenic pathways.
Perkins E et al.
The Journal of Physiology, 2016
The autosomal dominant spinocerebellar ataxias: emerging mechanistic themes suggest pervasive Purkinje cell vulnerability.
Hekman KE et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2015
Functional analysis helps to define KCNC3 mutational spectrum in Dutch ataxia cases.
Duarri A et al.
Plos One, 2015
Molecular pathophysiology and pharmacology of the voltage-sensing module of neuronal ion channels.
Miceli F et al.
Frontiers in Cellular Neuroscience, 2015
KCNC3(R420H), a K(+) channel mutation causative in spinocerebellar ataxia 13 displays aberrant intracellular trafficking.
Gallego-Iradi C et al.
Neurobiology of Disease, 2014
Kv3.3 channels harbouring a mutation of spinocerebellar ataxia type 13 alter excitability and induce cell death in cultured cerebellar Purkinje cells.
Irie T et al.
The Journal of Physiology, 2014
Spinocerebellar ataxia-13 Kv3.3 potassium channels: arginine-to-histidine mutations affect both functional and protein expression on the cell surface.
Zhao J et al.
The Biochemical Journal, 2013
Spinocerebellar ataxia type 13 mutation that is associated with disease onset in infancy disrupts axonal pathfinding during neuronal development.
Issa FA et al.
Disease Models & Mechanisms, 2012
Brain pathology of spinocerebellar ataxias.
Seidel K et al.
Acta Neuropathologica, 2012
Altered Kv3.3 channel gating in early-onset spinocerebellar ataxia type 13.
Minassian NA et al.
The Journal of Physiology, 2012
The spinocerebellar ataxias: clinical aspects and molecular genetics.
Matilla-Dueñas A et al.
Advances in Experimental Medicine and Biology, 2012
Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13).
Figueroa KP et al.
Plos One, 2011
Functional effects of spinocerebellar ataxia type 13 mutations are conserved in zebrafish Kv3.3 channels.
Mock AF et al.
Bmc Neuroscience, 2010
Past, present and future therapeutics for cerebellar ataxias.
Marmolino D et al.
Current Neuropharmacology, 2010
KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients.
Figueroa KP et al.
Human Mutation, 2010
The spinocerebellar ataxias.
Paulson HL
Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-ophthalmology Society, 2009
Spinocerebellar ataxias: an update.
Soong BW et al.
Current Opinion in Neurology, 2007
Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes.
Waters MF et al.
Nature Genetics, 2006