Associated Papers
Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.
Molaei N et al.
Scientific Reports, 2025
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
Zebrafish Models of Rare Neurological Diseases like Spinocerebellar Ataxias (SCAs): Advantages and Limitations.
Sarasamma S et al.
Biology, 2023
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
Apo and ligand-bound high resolution Cryo-EM structures of the human Kv3.1 channel reveal a novel binding site for positive modulators.
Botte M et al.
Pnas Nexus, 2022
Toe Walking as the Initial Symptom of a Spinocerebellar Ataxia 13 in a Patient Presenting with a Mutation in the KCNC3 Gene.
Pomarino D et al.
Global Medical Genetics, 2022
Exome first approach to reduce diagnostic costs and time - retrospective analysis of 111 individuals with rare neurodevelopmental disorders.
Klau J et al.
European Journal of Human Genetics : Ejhg, 2022
Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance.
Ghorbani F et al.
Frontiers in Genetics, 2022
NGS in Hereditary Ataxia: When Rare Becomes Frequent.
Galatolo D et al.
International Journal of Molecular Sciences, 2021
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
Diagnostic approach to paediatric movement disorders: a clinical practice guide.
Brandsma R et al.
Developmental Medicine and Child Neurology, 2021
Spinocerebellar Ataxia 13 Presenting with Pure Cerebellar Syndrome in a Korean Family.
Kim M et al.
Journal of Movement Disorders, 2020
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
Intellectual Disability and Potassium Channelopathies: A Systematic Review.
Kessi M et al.
Frontiers in Genetics, 2020
Modeling Neurodegenerative Spinocerebellar Ataxia Type 13 in Zebrafish Using a Purkinje Neuron Specific Tunable Coexpression System.
Namikawa K et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2019
Neurological Disease Modelling for Spinocerebellar Ataxia Using Zebrafish.
Namikawa K et al.
Journal of Experimental Neuroscience, 2019
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
A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.
Coutelier M et al.
Brain : a Journal of Neurology, 2017
SCA13 causes dominantly inherited non-progressive myoclonus ataxia.
Montaut S et al.
Parkinsonism & Related Disorders, 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
Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients.
Kuperberg M et al.
Journal of Child Neurology, 2016
Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders.
van de Warrenburg BP et al.
European Journal of Human Genetics : Ejhg, 2016
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
De novo point mutations in patients diagnosed with ataxic cerebral palsy.
Parolin Schnekenberg R et al.
Brain : a Journal of Neurology, 2015
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
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
Comprehensive phenotype of the p.Arg420his allelic form of spinocerebellar ataxia type 13.
Subramony SH et al.
Cerebellum (london, England), 2013
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
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
Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13).
Figueroa KP et al.
Plos One, 2011
KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients.
Figueroa KP et al.
Human Mutation, 2010