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leucine-rich glioma-inactivated protein 1 (epitempin-1, LGI1)
Function:
- ligand for ADAM22
- positively regulates synaptic transmission mediated by AMPA glutamate receptors [2]
Structure:
- contains 3 LRR (leucine-rich repeats)
Compartment: secreted
Alternative splicing: named isoforms=2
Expression: expressed in neural tissues, especially in brain
Pathology:
1) expression is reduced in low-grade brain tumors & is significantly reduced or absent in malignant gliomas
2) defects in LGI1 are the cause of autosomal dominant lateral temporal epilepsy (ADLTE)
3) 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]
- 85% present with fasciobrachial dystonic seizures
4) anti-leucine-rich glioma inactivated 1 encephalitis (anti-LGI1 encephalitis) may present as refractory temporal lobe epilepsy or status epilepticus
Related
anti-leucine-rich glioma inactivated 1 (LGI1) encephalitis
General
secreted protein
Properties
SIZE: MW = 64 kD
entity length = 557 aa
COMPARTMENT: extracellular compartment
MOTIF: signal sequence {1-34}
leucine-rich repeat
SITE: 90-113
MOTIF: leucine residue (SEVERAL)
leucine-rich repeat
SITE: 114-137
MOTIF: leucine residue (SEVERAL)
leucine-rich repeat
SITE: 138-161
MOTIF: leucine residue (SEVERAL)
N-glycosylation site {N192}
EAR {224-267}
EAR {270-313}
MOTIF: N-glycosylation site {N277}
EAR {316-364}
EAR {365-415}
EAR {418-462}
MOTIF: N-glycosylation site {N422}
EAR {463-506}
EAR {509-552}
Database Correlations
OMIM correlations
MORBIDMAP 604619
UniProt O95970
PFAM correlations
References
- UniProt :accession O95970
- 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: 28878050