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Article

Disruption of LGI1–linked synaptic complex causes abnormal synaptic transmission and epilepsy

2 Feb 2010

Abstract excerpt

Epilepsy is a devastating and poorly understood disease. Mutations in a secreted neuronal protein, leucine-rich glioma inactivated 1 (LGI1), were reported in patients with an inherited form of human epilepsy, autosomal dominant partial epilepsy with auditory features (ADPEAF). Here, we report an essential role of LGI1 as an antiepileptogenic ligand. We find that loss of LGI1 in mice (LGI1(-/-)) causes lethal...

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Identifiers

PMID: 20133599
DOI: 10.1073/pnas.0914537107

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Related research

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Research trail→

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Disruption of LGI1–linked synaptic complex causes abnormal synaptic transmission and epilepsyPMID 20133599Read ↗

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Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features.Semantic proximity Read ↗

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Autoantibodies to Epilepsy-Related LGI1 in Limbic Encephalitis Neutralize LGI1-ADAM22 Interaction and Reduce Synaptic AMPA ReceptorsSemantic proximity Read ↗

LGI1 downregulation increases neuronal circuit excitabilitySemantic proximity Read ↗

Lgi1 null mutant mice exhibit myoclonic seizures and CA1 neuronal hyperexcitabilitySemantic proximity Read ↗

ADPEAF mutations reduce levels of secreted LGI1, a putative tumor suppressor protein linked to epilepsy.Semantic proximity Read ↗

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