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Article

KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating.

Human molecular genetics - 16 Nov 2021

Zhang Yongqiang, Tachtsidis Georgios, Schob Claudia, Koko Mahmoud, Hedrich Ulrike B S, Lerche Holger, Lemke Johannes R, van Haeringen Arie, Ruivenkamp Claudia, Prescott Trine, Tveten Kristian, Gerstner Thorsten, Pruniski Brianna, DiTroia Stephanie, VanNoy Grace E, Rehm Heidi L, McLaughlin Heather, Bolz Hanno J, Zechner Ulrich, Bryant Emily, McDonough Tiffani, Kindler Stefan, Bähring Robert

Abstract excerpt

Here, we report on six unrelated individuals, all presenting with early-onset global developmental delay, associated with impaired motor, speech and cognitive development, partly with developmental epileptic encephalopathy and physical dysmorphisms. All individuals carry heterozygous missense variants of KCND2, which encodes the voltage-gated potassium (Kv) channel α-subunit Kv4.2. The amino acid substitutions...

Topics

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Amino Acid Substitution
Biomarkers
Developmental Disabilities
Disease Susceptibility

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Infant, Newborn

Ion Channel Gating

Protein Subunits

Shal Potassium Channels

Source

Open in PubMed Open full text

Identifiers

PMID: 34245260
DOI: 10.1093/hmg/ddab192
PMCID: PMC8600029

Genes

DPP6
KCND2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating.PMID 34245260Read ↗

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Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literatureSemantic proximity Read ↗

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