leucine-rich glioma-inactivated protein 1 (epitempin-1, LGI1)
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Function
- ligand for ADAM22
- positively regulates synaptic transmission mediated by AMPA glutamate receptors[2]
Structure
- contains 3 LRR (leucine-rich repeats)
Compartment
Alternative splicing
named isoforms=2
Expression
expressed in neural tissues, especially in brain
Pathology
- expression is reduced in low-grade brain tumors & is significantly reduced or absent in malignant gliomas
- defects in LGI1 are the cause of autosomal dominant lateral temporal epilepsy (ADLTE)
- LGI1 Ab in CSF is the most common antibody to neuronal cell surface antigens in elderly with encephalitis without evidence of CNS inflammation by brain MRI or CSF pleocytosis[2]
- anti-leucine-rich glioma inactivated 1 encephalitis (anti-LGI1 encephalitis) may present as refractory temporal lobe epilepsy or status epilepticus
More general terms
Additional terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/O95970.html
- ↑ 2.0 2.1 2.2 Probasco JC Antibody-Associated CNS Syndromes Without Inflammation in Elders. NEJM Journal Watch. Nov 7, 2017 Massachusetts Medical Society (subscription needed) http://www.jwatch.org
Escudero DEscudero D, Guasp M, Arino H et al. Antibody-associated CNS syndromes without signs of inflammation in the elderly. Neurology 2017 Oct 3; 89:1471 PMID: https://www.ncbi.nlm.nih.gov/pubmed/28878050