2023
DOI: 10.1186/s13578-023-00983-y
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A patient-derived mutation of epilepsy-linked LGI1 increases seizure susceptibility through regulating Kv1.1

Abstract: Background Autosomal dominant lateral temporal epilepsy (ADLTE) is an inherited syndrome caused by mutations in the leucine-rich glioma inactivated 1 (LGI1) gene. It is known that functional LGI1 is secreted by excitatory neurons, GABAergic interneurons, and astrocytes, and regulates AMPA-type glutamate receptor-mediated synaptic transmission by binding ADAM22 and ADAM23. However, > 40 LGI1 mutations have been reported in familial ADLTE patients, more than half of which are secretion-defecti… Show more

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Cited by 4 publications
(2 citation statements)
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“…[122 81 82] The importance of Kv2 downregulation in perturbing excitability in LGI1 deficiency is also highlighted by the fact that restoring Kv1.1 expression in secretion-deficient LGI1 W183R neurons does not fully rescue the mice life span. [22] Further investigations are needed to address whether LGI1 is directly implicated in modulating Kv2 expression levels and whether Kv1 downregulation is parallel to or consequent to Kv2 downregulation.…”
Section: Discussionmentioning
confidence: 99%
See 1 more Smart Citation
“…[122 81 82] The importance of Kv2 downregulation in perturbing excitability in LGI1 deficiency is also highlighted by the fact that restoring Kv1.1 expression in secretion-deficient LGI1 W183R neurons does not fully rescue the mice life span. [22] Further investigations are needed to address whether LGI1 is directly implicated in modulating Kv2 expression levels and whether Kv1 downregulation is parallel to or consequent to Kv2 downregulation.…”
Section: Discussionmentioning
confidence: 99%
“…[21 8] An additional secretiondefective LGI1 mutation was recently found to induce Kv1.1 downregulation underlying neuronal hyperexcitability and irregular spiking in the CA1 pyramidal cells. [22] Although…”
Section: Introductionmentioning
confidence: 99%