Kv3.3 potassium channels and spinocerebellar ataxia.
New Haven, United States. In J Physiol, Nov 2015
Kv3.3 differs from other closely related channels in that human mutations in the gene encoding Kv3.3 (KCNC3) result in a unique neurodegenerative disease, termed spinocerebellar ataxia type 13 (SCA13).
Spinocerebellar ataxia 28: a novel AFG3L2 mutation in a German family with young onset, slow progression and saccadic slowing.
Lübeck, Germany. In Cerebellum Ataxias, 2014
METHODS: After excluding repeat expansions in the genes for SCA1-3, 6-8, 10, 12, and 17, Sanger sequencing of the coding regions of TTBK2 (SCA11), KCNC3 (SCA13), PRKCG (SCA14), FGF14 (SCA27) and AFG3L2 (SCA28) was performed.
Action potential processing in a detailed Purkinje cell model reveals a critical role for axonal compartmentalization.
Pavia, Italy. In Front Cell Neurosci, 2014
In order to account for the numerous ionic mechanisms involved (at present including Nav1.6, Cav2.1, Cav3.1, Cav3.2, Cav3.3, Kv1.1, Kv1.5, Kv3.3, Kv3.4,
Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond.
Paris, France. In Lancet Neurol, 2010
All other SCAs are caused by either conventional mutations or large rearrangements in genes with different functions, including glutamate signalling (SCA5/SPTBN2) and calcium signalling (SCA15/16/ITPR1), channel function (SCA13/KCNC3, SCA14/PRKCG, SCA27/FGF14), tau regulation (SCA11/TTBK2), and mitochondrial activity (SCA28/AFG3L2) or RNA alteration (SCA31/BEAN-TK2).
Spinocerebellar Ataxia Type 13
Seattle, United States. In Unknown Journal, 2006
DIAGNOSIS/TESTING: Diagnosis is based on clinical findings and molecular genetic testing of KCNC3 (also known as Kv3.3), the only gene known to be associated with SCA13.