Kv7/KCNQ potassium channels in cortical hyperexcitability and juvenile seizure-related death in Ank2-mutant mice
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Mice lacking a gene that encodes for a scaffolding protein in neurons exhibit autism-like symptoms due to increased neuron excitability.
Autism, a brain development disorder, is thought to affect about three out of 100 people in the USA. People with the condition often experience difficultly learning and interacting with others. They can also exhibit repetitive behaviours and have epileptic fits.
Several genes have been identified as risk genes for autism, but it is not known how mutations in these genes give rise to the disorder.
Knocking out one such risk gene, which encodes for a protein that anchors surface proteins to neurons, caused abnormal behaviours and fatal seizures in mice, a team led by scientists from the Institute for Basic Science in South Korea has found.
The results suggest that mutations in the risk gene increase the excitability of neurons in the cortex and hippocampus, which gives rise to autistic behaviours, including epileptic-like seizures.
- Nature Communications 14, 3547 (2023). doi: 10.1038/s41467-023-39203-z