C-terminal proline deletions in KCNC3 cause delayed channel inactivation and an adult-onset progressive SCA13 with spasticity

SCA13 causes dominantly inherited non-progressive myoclonus ataxia

(2017) Solveig Montaut et al.   PARKINSONISM & RELATED DISORDERS

A KCNC3 mutation causes a neurodevelopmental, non-progressive SCA13 subtype associated with dominant negative effects and aberrant EGFR trafficking

(2017) Swati Khare et al.   PLoS One

Kv3.3 Channels Bind Hax-1 and Arp2/3 to Assemble a Stable Local Actin Network that Regulates Channel Gating

(2016) Yalan Zhang et al.   CELL

SCA1 patients may present as hereditary spastic paraplegia and must be included in spastic-ataxias group

(2015) José Luiz Pedroso et al.   PARKINSONISM & RELATED DISORDERS

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

(2015) Anna Duarri et al.   PLoS One

A novel missense mutation inCCDC88Cactivates the JNK pathway and causes a dominant form of spinocerebellar ataxia

(2014) Ho Tsoi et al.   JOURNAL OF MEDICAL GENETICS

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

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

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

Early Changes in Cerebellar Physiology Accompany Motor Dysfunction in the Polyglutamine Disease Spinocerebellar Ataxia Type 3

(2011) V. G. Shakkottai et al.   JOURNAL OF NEUROSCIENCE

SCA13

(2008) M. F. Waters et al.   CEREBELLUM

Hax1-mediated processing of HtrA2 by Parl allows survival of lymphocytes and neurons

(2008) Jyh-Rong Chao et al.   NATURE