ArticleActa neuropathologica communications2020
Down syndrome cell adhesion molecule like-1 (DSCAML1) links the GABA system and seizure susceptibility.
Article in Acta neuropathologica communications, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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7 citing papers in PubMed, 11 citations in OpenAlex.
- Positional cloning of rat mutant genes reveals new functions of these genes.Experimental animals · 2023Review
- Deficiency in the cell-adhesion moleculeFrontiers in cell and developmental biology · 2023Article
- Stable wide-field voltage imaging for observing neuronal plasticity at the neuronal network level.Biophysics and physicobiology · 2023Article
- Assessing seizure liabilityFrontiers in cellular neuroscience · 2023Article
- Rat Models of Human Diseases and Related Phenotypes: A Novel Inventory of Causative Genes.Mammalian genome : official journal of the International Mammalian Genome Society · 2022Review
- The Hidden Side of NCAM Family: NCAM2, a Key Cytoskeleton Organization Molecule Regulating Multiple Neural Functions.International journal of molecular sciences · 2021Review
- Genome-wide characterization of human minisatellite VNTRs: population-specific alleles and gene expression differences.Nucleic acids research · 2021Article
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33 authors at 12 institutions in 1 country.
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Abstract
The Ihara epileptic rat (IER) is a mutant model with limbic-like seizures whose pathology and causative gene remain elusive. In this report, via linkage analysis, we identified Down syndrome cell adhesion molecule-like 1(Dscaml1) as the responsible gene for IER. A single base mutation in Dscaml1 causes abnormal splicing, leading to lack of DSCAML1. IERs have enhanced seizure susceptibility and accelerated kindling establishment. Furthermore, GABAergic neurons are severely reduced in the entorhinal cortex (ECx) of these animals. Voltage-sensitive dye imaging that directly presents the excitation status of brain slices revealed abnormally persistent excitability in IER ECx. This suggests that reduced GABAergic neurons may cause weak sustained entorhinal cortex activations, leading to natural kindling via the perforant path that could cause dentate gyrus hypertrophy and epileptogenesis. Furthermore, we identified a single nucleotide substitution in a human epilepsy that would result in one amino acid change in DSCAML1 (A2105T mutation). The mutant DSCAML1
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