Human Leucine-rich glioma-inactivated protein 1(LGI1) ELISA kit

Regulates voltage-gated potassium channels assembled from KCNA1, KCNA4 and KCNAB1. It slows down channel inactivation by precluding channel closure mediated by the KCNAB1 subunit. Ligand for ADAM22 that positively regulates synaptic transmission mediated by AMPA-type glutamate receptors. Plays a role in suppressing the production of MMP1/3 through the phosphatidylinositol 3-kinase/ERK pathway. May play a role in the control of neuroblastoma cell survival.

1. the LGI1-ADAM22 complex functions as the trans-synaptic machinery for precise synaptic transmission PMID: 29670100
2. The data obtained strongly suggest the possibility of gene LGL1 inactivation by epigenetic mechanism: modified <>. PMID: 30188624
3. The clinical phenotypes of anti-LGI1 encephalitis and anti-Caspr2 encephalitis have been described in more detail including data on treatment and long-term follow-up. Lumping patients with anti-LGI1, anti-Caspr2 antibodies or lacking both, should be considered obsolete--{REVIEW} PMID: 28248701
4. Autosomal dominant epilepsy with auditory features family due to a novel LGI1 mutation. PMID: 26459092
5. Clinical analysis of a lateral temporal lobe epilepsy cohort from Turkey and genetic contribution of LGI1 to autosomal dominant lateral temporal lobe epilepsy phenotype PMID: 26773249
6. Report of three novel LGI1 mutations, a microdeletion of exon 2 and two missense mutations in exon 8, occurring in two autosomal dominant lateral temporal epilepsy families and in one sporadic patient with lateral temporal epilepsy PMID: 25616465
7. study found no cryptic imbalances were in LGI1 in partial epilepsy with auditory features (PEAF) patients, suggesting that LGI1 microdeletions are not a frequent cause of PEAF PMID: 24721199
8. The Multiplex ligation-dependent probe amplifications analysis did not reveal any pathogenic changes in the LGI1 gene. Chromosomal rearrangements involving the LGI1 gene were not identified in our series of familial or sporadic LTE. PMID: 24315022
9. A new LGI1 missense mutation is identified in a large Korean family with autosomal dominant lateral temporal lobe epilepsy. PMID: 24177143
10. Seven LGI1-affected individuals report auditory aura and one visual aura; three families with autosomal dominant epilepsy and auditory features have novel LGI1 mutations. PMID: 24206907
11. Downregulation of LGI1 promotes tumor metastasis in esophageal squamous cell carcinoma. PMID: 24510112
12. This study expands the phenotypic spectrum associated with Autosomal dominant lateral temporal lobe epilepsy due to LGI1 mutation and underlines the need for more systematic evaluation of Attention-deficit hyperactivity disorder and related symptoms. PMID: 23651915
13. The LGI1-ADAM22 interaction is neutralized by autoantibodies to epilepsy-related LGI1 in limbic encephalitis. PMID: 24227725
14. This study demonistrated that Low penetrance of autosomal dominant lateral temporal epilepsy in Italian families without LGI1 mutations. PMID: 23621105
15. Cerebrocortical manifestations are recorded in 76% of patients with LGI1 immunoglobulin G (IgG) seropositivity. PMID: 23407760
16. Antibodies bind to proteins complexed with voltage-gated potassium channel (VGKC) complex in two patients with LG11-antibody encephalitis. PMID: 22744657
17. This is the first microdeletion affecting LGI1 identified in autosomal dominant lateral temporal epilepsy. PMID: 22496201
18. The N-terminal leucine-rich repeat region of the LGI1 gene is likely to play a major role in pathogenesis of autosomal dominant partial epilepsy with auditory features. PMID: 22323750
19. LGI1, a secreted synaptic protein mutated to cause human partial epilepsy, regulates a seizure-induced circuit response by redistributing Kv4.2 channels to the neuronal surface in a transgenic mouse model. PMID: 22122031
20. mutations in autosomal dominant lateral temporal epilepsy with low penetrance and effects on protein secretion PMID: 21504429
21. A possible arrangement between the two domains and identifies a possible ADAM protein binding site in the beta-propeller domain and another protein binding site in the leucine-rich repeat domain, is suggested. PMID: 21479274
22. Data report a family with temporal lobe epilepsy characterized by psychic symptoms associated with a novel LGI1 mutation. PMID: 21444903
23. The LGI family members is responsible for phenotypically similar, mechanistically related but genotypically distinct forms of epilepsy. PMID: 20863412
24. The target antigen of antibodies in patients with limbic encephalitis previously attributed to voltage-gated potassium channels is in fact LGI1, a secreted neuronal protein that functions as a ligand for two epilepsy-related proteins, ADAM22 and ADAM23. PMID: 20580615
25. These findings suggest that LGI1 mutations in Japanese ADLTE families may not be uncommon, and that diverse clinical phenotypes make adequate diagnosis of ADLTE difficult when only based on clinical information. PMID: 19780791
26. Data suggest that LGI1 binding to ADAM23 is necessary to correctly pattern neuronal morphology, and altered anatomical patterning contributes to autosomal dominant partial epilepsy with auditory features. PMID: 19796686
27. LGI1 may be an important molecule for the arrest of prostate cancer cell invasion and possibly a biomarker for early detection of prostate hyperplasia. PMID: 19778537
28. These observations support a role for LGI1 in synapse vesicle function in neurons. PMID: 19387870
29. mutations cause autosomal-dominant partial epilepsy with auditory features PMID: 11810107
30. Mutations in LGI1 causes autosomal dominant lateral temporal epilepsy PMID: 11978770
31. Shares a homology domain with MASS1, a mouse epilepsy protein PMID: 12095917
32. LGI1 is mutated in familial temporal lobe epilepsy characterized by aphasic seizures PMID: 12205652
33. A novel mutation in the Lgi1 signal peptide is predicted to interfere with protein cell sorting, resulting in altered processing. PMID: 12601709
34. A novel F318C substitution alters a highly conserved residue in a predicted repeat domain of LGI1 which may participate in the development of the "autosomal dominant partial epilepsy with auditory features" phenotype. PMID: 12771268
35. LGI1 has a role in cell growth and neoplasm invasiveness in glioma cells PMID: 12821932
36. novel mutations in LGI1 gene are traced to temporal epilepsy. PMID: 15009222
37. Loss of LGI1 expression may be an important event in the progression of gliomas that leads to a more invasive phenotype in these cells PMID: 15047712
38. In temporal lobe epilepsy, mutations in LGI1 are specific for autosomal dominant partial epilepsy with auditory features {ADPEAF} but do not occur in all families; ADPEAF is genetically heterogeneous PMID: 15079010
39. LGI1 mutations are a common cause of autosomal dominant partial epilepsy with auditory features[ADPEAF]. Current data do not reveal a clinical feature clearly predictive of which ADPEAF families have a mutation PMID: 15079011
40. that the evidence supporting the tumor suppressor role of LGI1 in malignant gliomas is weak and that further work is necessary to establish LGI1 role in glial cells PMID: 15827762
41. LGI1 controls neuronal cell survival PMID: 16518856
42. No analyzed polymorphisms modified susceptibility in either the familial or sporadic forms of this partial epilepsy. PMID: 16707245
43. Two protein isoforms encoded by LGI1/epitempin are differentially expressed in human brain; higher expression levels in lateral temporal cortex may underlie the susceptibility of this brain region to epileptogenic effects of LGI1/epitempin mutations. PMID: 16787412
44. LGI1 is a secreted protein and suggest that LGI1-related epilepsy results from a loss of function. PMID: 17296837
45. We found a structural anomaly of the left lateral temporal lobe in epilepsy due to mutated LGI1. PMID: 17875918
46. no mutations in the leucine-rich, glioma-inactivated 1 (LGI1) gene linked to familial or sporadic lateral temporal epilepsy were found PMID: 18355961
47. A novel loss-of-function mutation in LGI1 provides further evidence that mutations in LGI1 hamper secretion of the Lgi1 protein, thereby precluding its normal function. PMID: 18625862
48. About two-thirds of individuals who inherit a mutation in LGI1 will develop epilepsy. This probably overestimates the true penetrance in the population because it is based on data from families containing multiple affected individuals. PMID: 18711109
49. Both truncating and missense mutations appear to prevent secretion of mutant proteins, suggesting a loss of function effect of mutations. PMID: 19191227
50. In a family in which three patients also experienced migraine-like episodes we found a novel three base-pair deletion (c.377_379delACA), resulting in the deletion of an asparagine residue in the second leucine-rich repeat. PMID: 19268539

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Epilepsy, familial temporal lobe, 1 (ETL1)

Secreted. Cell junction, synapse. Note=Isoform 1 but not isoform 2 is secreted. Isoform 1 is enriched in the Golgi apparatus while isoform 2 accumulates in the endoplasmic reticulum.

Predominantly expressed in neural tissues, especially in brain. Expression is reduced in low-grade brain tumors and significantly reduced or absent in malignant gliomas. Isoform 1 is absent in the cerebellum and is detectable in the occipital cortex and h

HGNC: 6572

OMIM: 600512

KEGG: hsa:9211

STRING: 9606.ENSP00000360472

UniGene: Hs.533670