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December 01, 2017; 3 (6) ArticleOpen Access

Characterization of a KCNB1 variant associated with autism, intellectual disability, and epilepsy

Jeffrey D. Calhoun, Carlos G. Vanoye, Fernando Kok, Alfred L. George and Jennifer A. Kearney
First published December 12, 2017, DOI: https://doi.org/10.1212/NXG.0000000000000198
Jeffrey D. Calhoun
From the Department of Pharmacology (J.D.C., C.G.V., A.L.G., J.A.K.), Northwestern University Feinberg School of Medicine, Chicago, IL; Human Genome and Stem Cell Research Center (F.K.), Biosciences Institute, University of Sao Paulo, Brazil; and Mendelics Análise Genomica (F.K.), Sao Paulo, Brazil.
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Carlos G. Vanoye
From the Department of Pharmacology (J.D.C., C.G.V., A.L.G., J.A.K.), Northwestern University Feinberg School of Medicine, Chicago, IL; Human Genome and Stem Cell Research Center (F.K.), Biosciences Institute, University of Sao Paulo, Brazil; and Mendelics Análise Genomica (F.K.), Sao Paulo, Brazil.
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Fernando Kok
From the Department of Pharmacology (J.D.C., C.G.V., A.L.G., J.A.K.), Northwestern University Feinberg School of Medicine, Chicago, IL; Human Genome and Stem Cell Research Center (F.K.), Biosciences Institute, University of Sao Paulo, Brazil; and Mendelics Análise Genomica (F.K.), Sao Paulo, Brazil.
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Alfred L. George
From the Department of Pharmacology (J.D.C., C.G.V., A.L.G., J.A.K.), Northwestern University Feinberg School of Medicine, Chicago, IL; Human Genome and Stem Cell Research Center (F.K.), Biosciences Institute, University of Sao Paulo, Brazil; and Mendelics Análise Genomica (F.K.), Sao Paulo, Brazil.
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Jennifer A. Kearney
From the Department of Pharmacology (J.D.C., C.G.V., A.L.G., J.A.K.), Northwestern University Feinberg School of Medicine, Chicago, IL; Human Genome and Stem Cell Research Center (F.K.), Biosciences Institute, University of Sao Paulo, Brazil; and Mendelics Análise Genomica (F.K.), Sao Paulo, Brazil.
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Characterization of a KCNB1 variant associated with autism, intellectual disability, and epilepsy
Jeffrey D. Calhoun, Carlos G. Vanoye, Fernando Kok, Alfred L. George, Jennifer A. Kearney
Neurology Genetics Dec 2017, 3 (6) e198; DOI: 10.1212/NXG.0000000000000198

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    Figure Functional characterization of KCNB1-WT and KCNB1-I199F

    (A) Location of the I199F variant mapped onto the crystal structure of a KV2.1/KV1.2 chimera (PDB 29R9).10 A channel tetramer is shown. I199F (magenta) lies in the S1 transmembrane segment of the voltage-sensing domain. (B) KCNB1-I199F is expressed and trafficked to the cell surface. Cell-surface expression was measured using cell-surface biotinylation of CHO-K1 cells transfected with wild-type (WT) or mutant KV2.1. Total (5 μg per lane) and surface fractions of KV2.1 were detected with the anti-KV2.1 antibody. Endogenous TfR levels were measured as a loading control. Calnexin was present in total cell lysates, but not surface fraction, demonstrating selective biotinylation of extracellular proteins. The blot shown is representative of 3 independent experiments. (C) Current-voltage relationships measured for KCNB1-I199F (n = 74) and WT homotetrameric channels (n = 185). (D) Voltage dependence of activation and inactivation curves calculated for KCNB1-I199F (n = 23) and WT (n = 63) homotetrameric channels. (E) Current-voltage relationships measured for KCNB1-I199F (n = 40) and WT (n = 27) heterotetrameric channels. (F) Voltage dependence of activation and inactivation curves calculated for KCNB1-I199F (n = 31) and WT (n = 26) heterotetrameric channels.

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  • Developmental disorders
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  • Partial seizures

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