Property Summary

NCBI Gene PubMed Count 60
Grant Count 73
R01 Count 34
Funding $17,860,460.33
PubMed Score 294.92
PubTator Score 235.92

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (12)

Disease log2 FC p
astrocytic glioma -2.600 0.009
glioblastoma -3.400 0.000
oligodendroglioma -2.200 0.000
sonic hedgehog group medulloblastoma -5.300 0.000
atypical teratoid / rhabdoid tumor -3.700 0.000
medulloblastoma, large-cell -5.500 0.000
primitive neuroectodermal tumor -3.500 0.002
colon cancer -1.500 0.000
interstitial cystitis -1.200 0.004
adult high grade glioma -3.500 0.000
pilocytic astrocytoma -4.200 0.000
psoriasis -1.400 0.000

Synonym

Accession O95970 A8K0Z1 B4E1S0 Q5W001 Q5W002 Q8NI23 Q96LF5
Symbols EPT
ETL1
ADLTE
ADPAEF
ADPEAF
IB1099
EPITEMPIN

Gene

PANTHER Protein Class (1)

Gene RIF (51)

PMID Text
26773249 Clinical analysis of a lateral temporal lobe epilepsy cohort from Turkey and genetic contribution of LGI1 to autosomal dominant lateral temporal lobe epilepsy phenotype
25616465 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
24721199 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
24510112 Downregulation of LGI1 promotes tumor metastasis in esophageal squamous cell carcinoma.
24315022 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.
24227725 The LGI1-ADAM22 interaction is neutralized by autoantibodies to epilepsy-related LGI1 in limbic encephalitis.
24206907 Seven LGI1-affected individuals report auditory aura and one visual aura; three families with autosomal dominant epilepsy and auditory features have novel LGI1 mutations.
24177143 A new LGI1 missense mutation is identified in a large Korean family with autosomal dominant lateral temporal lobe epilepsy.
23651915 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.
23621105 This study demonistrated that Low penetrance of autosomal dominant lateral temporal epilepsy in Italian families without LGI1 mutations.
More...

AA Sequence

MESERSKRMGNACIPLKRIAYFLCLLSALLLTEGKKPAKPKCPAVCTCTKDNALCENARSIPRTVPPDVI      1 - 70
SLSFVRSGFTEISEGSFLFTPSLQLLLFTSNSFDVISDDAFIGLPHLEYLFIENNNIKSISRHTFRGLKS     71 - 140
LIHLSLANNNLQTLPKDIFKGLDSLTNVDLRGNSFNCDCKLKWLVEWLGHTNATVEDIYCEGPPEYKKRK    141 - 210
INSLSSKDFDCIITEFAKSQDLPYQSLSIDTFSYLNDEYVVIAQPFTGKCIFLEWDHVEKTFRNYDNITG    211 - 280
TSTVVCKPIVIETQLYVIVAQLFGGSHIYKRDSFANKFIKIQDIEILKIRKPNDIETFKIENNWYFVVAD    281 - 350
SSKAGFTTIYKWNGNGFYSHQSLHAWYRDTDVEYLEIVRTPQTLRTPHLILSSSSQRPVIYQWNKATQLF    351 - 420
TNQTDIPNMEDVYAVKHFSVKGDVYICLTRFIGDSKVMKWGGSSFQDIQRMPSRGSMVFQPLQINNYQYA    421 - 490
ILGSDYSFTQVYNWDAEKAKFVKFQELNVQAPRSFTHVSINKRNFLFASSFKGNTQIYKHVIVDLSA       491 - 557
//

Text Mined References (62)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26773249 2016 Screening LGI1 in a cohort of 26 lateral temporal lobe epilepsy patients with auditory aura from Turkey detects a novel de novo mutation.
25616465 2015 Autosomal dominant lateral temporal epilepsy (ADLTE): novel structural and single-nucleotide LGI1 mutations in families with predominant visual auras.
24721199 2014 LGI1 microdeletions are not a frequent cause of partial epilepsy with auditory features (PEAF).
24510112 2014 Downregulation of LGI1 promotes tumor metastasis in esophageal squamous cell carcinoma.
24315022 2014 Autosomal dominant lateral temporal epilepsy (ADLTE): absence of chromosomal rearrangements in LGI1 gene.
24227725 2013 Autoantibodies to epilepsy-related LGI1 in limbic encephalitis neutralize LGI1-ADAM22 interaction and reduce synaptic AMPA receptors.
24206907 2013 Seizure semiology in autosomal dominant epilepsy with auditory features, due to novel LGI1 mutations.
24177143 2014 A newly discovered LGI1 mutation in Korean family with autosomal dominant lateral temporal lobe epilepsy.
23651915 2013 Hyperactive behavior in a family with autosomal dominant lateral temporal lobe epilepsy caused by a mutation in the LGI1/epitempin gene.
More...