Associated Papers
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
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
Genetic screening for potassium channel mutations in Japanese autosomal dominant spinocerebellar ataxia.
Tada Y et al.
Journal of Human Genetics, 2020
Insights From Genetic Studies of Cerebral Palsy.
Lewis SA et al.
Frontiers in Neurology, 2020
33551980 (PubMed )
Supplement: Table_1.XLSX › variants
The emerging genetic landscape of cerebral palsy.
van Eyk CL et al.
Handbook of Clinical Neurology, 2018
Kv3.3 potassium channels and spinocerebellar ataxia.
Zhang Y 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
Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model.
Németh AH et al.
Brain : a Journal of Neurology, 2013
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