
doi: 10.1038/ng1758
pmid: 16501573
Potassium channel mutations have been described in episodic neurological diseases. We report that K+ channel mutations cause disease phenotypes with neurodevelopmental and neurodegenerative features. In a Filipino adult-onset ataxia pedigree, the causative gene maps to 19q13, overlapping the SCA13 disease locus described in a French pedigree with childhood-onset ataxia and cognitive delay. This region contains KCNC3 (also known as Kv3.3), encoding a voltage-gated Shaw channel with enriched cerebellar expression. Sequencing revealed two missense mutations, both of which alter KCNC3 function in Xenopus laevis expression systems. KCNC3(R420H), located in the voltage-sensing domain, had no channel activity when expressed alone and had a dominant-negative effect when co-expressed with the wild-type channel. KCNC3(F448L) shifted the activation curve in the negative direction and slowed channel closing. Thus, KCNC3(R420H) and KCNC3(F448L) are expected to change the output characteristics of fast-spiking cerebellar neurons, in which KCNC channels confer capacity for high-frequency firing. Our results establish a role for KCNC3 in phenotypes ranging from developmental disorders to adult-onset neurodegeneration and suggest voltage-gated K+ channels as candidates for additional neurodegenerative diseases.
Cerebellar Ataxia, Molecular Sequence Data, Mutation, Missense, Xenopus laevis, Phenotype, Shaw Potassium Channels, Mutation, Animals, Humans, Amino Acid Sequence, Ion Channel Gating
Cerebellar Ataxia, Molecular Sequence Data, Mutation, Missense, Xenopus laevis, Phenotype, Shaw Potassium Channels, Mutation, Animals, Humans, Amino Acid Sequence, Ion Channel Gating
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