Functional Analysis Helps to Define KCNC3 Mutational Spectrum in Dutch Ataxia Cases

KCNC3R420H, a K+ channel mutation causative in spinocerebellar ataxia 13 displays aberrant intracellular trafficking

(2014) Carolina Gallego-Iradi et al.   NEUROBIOLOGY OF DISEASE

Spinocerebellar ataxia-13 Kv3.3 potassium channels: arginine-to-histidine mutations affect both functional and protein expression on the cell surface

(2013) Jian Zhao et al.   BIOCHEMICAL JOURNAL

Spinocerebellar Ataxia Type 13 is an Uncommon SCA Subtype in the Chinese Han Population

(2013) Lan Peng et al.   INTERNATIONAL JOURNAL OF NEUROSCIENCE

Identification and characterization of novel PDYN mutations in dominant cerebellar ataxia cases

(2013) Justyna Jezierska et al.   JOURNAL OF NEUROLOGY

Kv3.3 channels harbouring a mutation of spinocerebellar ataxia type 13 alter excitability and induce cell death in cultured cerebellar Purkinje cells

(2013) Tomohiko Irie et al.   JOURNAL OF PHYSIOLOGY-LONDON

The L450P mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together

(2013) Anna Duarri et al.   NEUROGENETICS

Mutation in the Kv3.3 Voltage-Gated Potassium Channel Causing Spinocerebellar Ataxia 13 Disrupts Sound-Localization Mechanisms

(2013) John C. Middlebrooks et al.   PLoS One

Kv3.3b expression defines the shape of the complex spike in the Purkinje cell

(2013) Ken Veys et al.   Frontiers in Cellular Neuroscience

Mutations in potassium channelkcnd3cause spinocerebellar ataxia type 19

(2012) Anna Duarri et al.   ANNALS OF NEUROLOGY

Mesial temporal lobe epilepsy in a patient with spinocerebellar ataxia type 13 (SCA13)

(2012) Katrin Bürk et al.   INTERNATIONAL JOURNAL OF NEUROSCIENCE

The frequency of spinocerebellar ataxia type 23 in a UK population

(2012) Katherine Fawcett et al.   JOURNAL OF NEUROLOGY

Altered Kv3.3 channel gating in early-onset spinocerebellar ataxia type 13

(2012) Natali A. Minassian et al.   JOURNAL OF PHYSIOLOGY-LONDON

Spinocerebellar Ataxia Type 13 Mutant Potassium Channel Alters Neuronal Excitability and Causes Locomotor Deficits in Zebrafish

(2011) F. A. Issa et al.   JOURNAL OF NEUROSCIENCE

Frequency of KCNC3 DNA Variants as Causes of Spinocerebellar Ataxia 13 (SCA13)

(2011) Karla P. Figueroa et al.   PLoS One

Functional effects of spinocerebellar ataxia type 13 mutations are conserved in zebrafish Kv3.3 channels

(2010) Allan F Mock et al.   BMC NEUROSCIENCE

Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias

(2010) Claudia Cagnoli et al.   HUMAN MUTATION

Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds

(2010) P. Bauer et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

The Role of Kv3-type Potassium Channels in Cerebellar Physiology and Behavior

(2009) Rolf H. Joho et al.   CEREBELLUM

KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients

(2009) Karla P. Figueroa et al.   HUMAN MUTATION

Kv3.3 Channels at the Purkinje Cell Soma Are Necessary for Generation of the Classical Complex Spike Waveform

(2008) E. Zagha et al.   JOURNAL OF NEUROSCIENCE