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DELETION OF THE POTASSIUM CHANNEL GENE KCNC2 IN A FAMILY WITH NEURODEVELOPMENTAL DELAY AND ATAXIA
  1. S Rajakulendran1,2,*,
  2. H Stewart1,2,
  3. M Koltzenburg1,2,
  4. MG Hanna1,2
  1. 1Oxford University Hospitals NHS trust
  2. 2UCL – Institute of Neurology; MRC Centre for Neuromuscular Diseases, Queen Square, London

    Abstract

    Mutations in genes encoding ion channel subunits have been described in association with a growing number of central and peripheral nervous system phenotypes. The Kv3 subfamily of potassium channels are encoded by four genes, KCNC1-KCNC4. They play an important role in the high-frequency firing of action potentials in the brain. Here we describe a family in which the three affected members exhibit various degrees of cognitive delay, ataxia and seizures. Cytogenetic analysis identified a deletion on chromosome 12q of the Shaw-related potassium channel gene, KCNC2 which encodes Kv3.2. We present the clinical, genetic and electrophysiological findings on this family in whom a new potassium channel defect has been identified. In addition to implicating important roles for potassium channels in neurodevelopment, these findings expand the clinical spectrum of potassium channelopathies.

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