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Table 1 Summary of Kv4.3 WT and dupRVF mutant channel properties

From: First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy

Kv4.3

Current density at +83 mV (pA)

Activation

Inactivation

V1/2 (mV)

Slope (mV)

V1/2 (mV)

Slope (mV)

WT (n = 8)

8561 ± 620

−13.3 ± 3.2

12.7 ± 0.8

−59.7 ± 6.1

4.7 ± 0.5

dupRVF (n = 9)

3861 ± 668**

46.0 ± 2.1**

11.7 ± 0.5

2.3 ± 7.0**

15.3 ± 2.0*

  1. Values are means ± SEM
  2. Statistical analysis t-test: *, p < 0.001; **, p < 0.0001
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BMC Medical Genetics

ISSN: 1471-2350

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