Kv4.2V404M Mutation Induces Epileptiform Activity and Multiple Behavioral Abnormalities in Heterozygous Knock-in Mice.

Abstract excerpt

The KCND2 gene encodes the Kv4.2 voltage-gated potassium channel alpha subunit that underlies the somatodendritic subthreshold A-type current (ISA) important for membrane excitability and dendritic signal integration and processing. A heterozygous missense mutation in KCND2 (NM_012281.2: c.1210G>A) was identified in patients with early-onset epilepsy, autism, and global developmental delay, producing a...

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• Behavior, Animal
• Epilepsy
• Gene Knock-In Techniques
• Heterozygote
• Mice, Inbred C57BL