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{{Infobox_gene}}
{{PBB_Controls
'''Leucine-rich, glioma inactivated 1''', also known as '''LGI1''', is a [[protein]] which in humans is encoded by the ''LGI1'' [[gene]].<ref name="entrez"/> It may be a [[metastasis suppressor]].
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Leucine-rich, glioma inactivated 1
| HGNCid = 6572
| Symbol = LGI1
| AltSymbols =; EPT; ETL1; IB1099
| OMIM = 604619
| ECnumber = 
| Homologene = 3737
| MGIid = 1861691
| GeneAtlas_image1 = PBB_GE_LGI1_206349_at_tn.png
| Function = {{GNF_GO|id=GO:0005515 |text = protein binding}}
| Component =
| Process = {{GNF_GO|id=GO:0007399 |text = nervous system development}} {{GNF_GO|id=GO:0008283 |text = cell proliferation}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 9211
    | Hs_Ensembl = ENSG00000108231
    | Hs_RefseqProtein = NP_005088
    | Hs_RefseqmRNA = NM_005097
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 10
    | Hs_GenLoc_start = 95507632
    | Hs_GenLoc_end = 95547906
    | Hs_Uniprot = O95970
    | Mm_EntrezGene = 56839
    | Mm_Ensembl = ENSMUSG00000067242
    | Mm_RefseqmRNA = NM_020278
    | Mm_RefseqProtein = NP_064674
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 19
    | Mm_GenLoc_start = 38329926
    | Mm_GenLoc_end = 38374083
    | Mm_Uniprot = Q9JIA1
  }}
}}
'''Leucine-rich, glioma inactivated 1''', also known as '''LGI1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: LGI1 leucine-rich, glioma inactivated 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9211| accessdate = }}</ref> It may be a [[metastasis suppressor]].


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
The leucine-rich glioma inactivated -1 gene is rearranged as a result of translocations in glioblastoma cell lines. The protein contains a hydrophobic segment representing a putative transmembrane domain with the amino terminus located outside the cell. It also contains leucine-rich repeats with conserved cysteine-rich flanking sequences. This gene is predominantly expressed in neural tissues and its expression is reduced in low grade brain tumors and significantly reduced or absent in malignant gliomas.<ref name="entrez">{{cite web | title = Entrez Gene: LGI1 leucine-rich, glioma inactivated 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9211| accessdate = }}</ref>
{{PBB_Summary
| section_title =
| summary_text = The leucine-rich glioma inactivated -1 gene is rearranged as a result of translocations in glioblastoma cell lines. The protein contains a hydrophobic segment representing a putative transmembrane domain with the amino terminus located outside the cell. It also contains leucine-rich repeats with conserved cysteine-rich flanking sequences. This gene is predominantly expressed in neural tissues and its expression is reduced in low grade brain tumors and significantly reduced or absent in malignant gliomas.<ref name="entrez">{{cite web | title = Entrez Gene: LGI1 leucine-rich, glioma inactivated 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9211| accessdate = }}</ref>
}}


==References==
==Clinical significance==
{{reflist|2}}
 
==Further reading==
Since its earliest discovery, the LGI1 gene has been implicated in the control of cancer [[metastasis]] and in a predisposition to [[epilepsy]]. Following genetic linkage studies placing the hereditary form of autosomal dominant partial epilepsy with Auditory features (ADPEAF) on chromosome region 10q24<ref name="pmid7647791">{{cite journal | vauthors = Ottman R, Risch N, Hauser WA, Pedley TA, Lee JH, Barker-Cummings C, Lustenberger A, Nagle KJ, Lee KS, Scheuer ML | title = Localization of a gene for partial epilepsy to chromosome 10q | journal = Nature Genetics | volume = 10 | issue = 1 | pages = 56–60 | date = May 1995 | pmid = 7647791 | pmc = 2823475 | doi = 10.1038/ng0595-56 }}</ref><ref name="pmid9855534">{{cite journal | vauthors = Wilson MH, Puranam RS, Ottman R, Gilliam C, Limbird LE, George AL, McNamara JO | title = Evaluation of the alpha(2A)-adrenergic receptor gene in a heritable form of temporal lobe epilepsy | journal = Neurology | volume = 51 | issue = 6 | pages = 1730–1 | date = Dec 1998 | pmid = 9855534 | doi = 10.1212/wnl.51.6.1730 }}</ref> mutation analysis of affected members in these families<ref name="pmid11810107">{{cite journal | vauthors = Kalachikov S, Evgrafov O, Ross B, Winawer M, Barker-Cummings C, Martinelli Boneschi F, Choi C, Morozov P, Das K, Teplitskaya E, Yu A, Cayanis E, Penchaszadeh G, Kottmann AH, Pedley TA, Hauser WA, Ottman R, Gilliam TC | title = Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features | journal = Nature Genetics | volume = 30 | issue = 3 | pages = 335–41 | date = Mar 2002 | pmid = 11810107 | pmc = 2606053 | doi = 10.1038/ng832 }}</ref><ref name="pmid15079011">{{cite journal | vauthors = Ottman R, Winawer MR, Kalachikov S, Barker-Cummings C, Gilliam TC, Pedley TA, Hauser WA | title = LGI1 mutations in autosomal dominant partial epilepsy with auditory features | journal = Neurology | volume = 62 | issue = 7 | pages = 1120–6 | date = Apr 2004 | pmid = 15079011 | pmc = 1361770 | doi = 10.1212/01.wnl.0000120098.39231.6e }}</ref> demonstrated LGI1 was the cause of the disease.
{{refbegin | 2}}
 
{{PBB_Further_reading
More recently, LGI1 has been shown to be the major target of human autoantibodies<ref name="pmid24014519">{{cite journal | vauthors = Irani SR, Stagg CJ, Schott JM, Rosenthal CR, Schneider SA, Pettingill P, Pettingill R, Waters P, Thomas A, Voets NL, Cardoso MJ, Cash DM, Manning EN, Lang B, Smith SJ, Vincent A, Johnson MR | title = Faciobrachial dystonic seizures: the influence of immunotherapy on seizure control and prevention of cognitive impairment in a broadening phenotype | journal = Brain | volume = 136 | issue = Pt 10 | pages = 3151–62 | date = Oct 2013 | pmid = 24014519 | doi = 10.1093/brain/awt212 }}</ref><ref name="pmid21416487">{{cite journal | vauthors = Irani SR, Michell AW, Lang B, Pettingill P, Waters P, Johnson MR, Schott JM, Armstrong RJ, S Zagami A, Bleasel A, Somerville ER, Smith SM, Vincent A | title = Faciobrachial dystonic seizures precede Lgi1 antibody limbic encephalitis | journal = Annals of Neurology | volume = 69 | issue = 5 | pages = 892–900 | date = May 2011 | pmid = 21416487 | doi = 10.1002/ana.22307 }}</ref><ref name="pmid20663977">{{cite journal | vauthors = Irani SR, Alexander S, Waters P, Kleopa KA, Pettingill P, Zuliani L, Peles E, Buckley C, Lang B, Vincent A | title = Antibodies to Kv1 potassium channel-complex proteins leucine-rich, glioma inactivated 1 protein and contactin-associated protein-2 in limbic encephalitis, Morvan's syndrome and acquired neuromyotonia | journal = Brain | volume = 133 | issue = 9 | pages = 2734–48 | date = Sep 2010 | pmid = 20663977 | pmc = 2929337 | doi = 10.1093/brain/awq213 }}</ref> which immunoprecipitate voltage-gated potassium channel complexes from mammalian brain tissue. LGI1 antibodies are found in patients with [[limbic encephalitis]] and in patients with faciobrachial dystonic seizures (FBDS) FBDS are a recently described epilepsy which is characterised by frequent, brief seizures which affect the arm and face. They appear to be preferentially responsive to immunotherapy over anti-epileptic drugs.
| citations =
 
*{{cite journal | author=Staub E, Pérez-Tur J, Siebert R, ''et al.'' |title=The novel EPTP repeat defines a superfamily of proteins implicated in epileptic disorders. |journal=Trends Biochem. Sci. |volume=27 |issue= 9 |pages= 441-4 |year= 2002 |pmid= 12217514 |doi= }}
== Interactions ==
*{{cite journal | author=Gu W, Brodtkorb E, Piepoli T, ''et al.'' |title=LGI1: a gene involved in epileptogenesis and glioma progression? |journal=Neurogenetics |volume=6 |issue= 2 |pages= 59-66 |year= 2005 |pmid= 15827762 |doi= 10.1007/s10048-005-0216-5 }}
 
*{{cite journal | author=Ottman R, Risch N, Hauser WA, ''et al.'' |title=Localization of a gene for partial epilepsy to chromosome 10q. |journal=Nat. Genet. |volume=10 |issue= 1 |pages= 56-60 |year= 1995 |pmid= 7647791 |doi= 10.1038/ng0595-56 }}
LGI1 has been shown to [[Protein-protein interaction|interact]] with [[ADAM22]],<ref name = pmid16990550/> and [[DLG4]].<ref name = pmid16990550>{{cite journal | vauthors = Fukata Y, Adesnik H, Iwanaga T, Bredt DS, Nicoll RA, Fukata M | title = Epilepsy-related ligand/receptor complex LGI1 and ADAM22 regulate synaptic transmission | journal = Science | volume = 313 | issue = 5794 | pages = 1792–5 | date = Sep 2006 | pmid = 16990550 | doi = 10.1126/science.1129947 }}</ref>
*{{cite journal | author=Chernova OB, Somerville RP, Cowell JK |title=A novel gene, LGI1, from 10q24 is rearranged and downregulated in malignant brain tumors. |journal=Oncogene |volume=17 |issue= 22 |pages= 2873-81 |year= 1999 |pmid= 9879993 |doi= 10.1038/sj.onc.1202481 }}
{{Clear}}
*{{cite journal | author=Kalachikov S, Evgrafov O, Ross B, ''et al.'' |title=Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features. |journal=Nat. Genet. |volume=30 |issue= 3 |pages= 335-41 |year= 2002 |pmid= 11810107 |doi= 10.1038/ng832 }}
 
*{{cite journal | author=Morante-Redolat JM, Gorostidi-Pagola A, Piquer-Sirerol S, ''et al.'' |title=Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy. |journal=Hum. Mol. Genet. |volume=11 |issue= 9 |pages= 1119-28 |year= 2002 |pmid= 11978770 |doi= }}
== References ==
*{{cite journal | author=Scheel H, Tomiuk S, Hofmann K |title=A common protein interaction domain links two recently identified epilepsy genes. |journal=Hum. Mol. Genet. |volume=11 |issue= 15 |pages= 1757-62 |year= 2003 |pmid= 12095917 |doi= }}
{{reflist|35em}}
*{{cite journal  | author=Gu W, Brodtkorb E, Steinlein OK |title=LGI1 is mutated in familial temporal lobe epilepsy characterized by aphasic seizures. |journal=Ann. Neurol. |volume=52 |issue= 3 |pages= 364-7 |year= 2002 |pmid= 12205652 |doi= 10.1002/ana.10280 }}
 
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
== Further reading ==
*{{cite journal  | author=Pizzuti A, Flex E, Di Bonaventura C, ''et al.'' |title=Epilepsy with auditory features: an LGI1 gene mutation suggests a loss-of-function mechanism. |journal=Ann. Neurol. |volume=53 |issue= 3 |pages= 396-9 |year= 2003 |pmid= 12601709 |doi= 10.1002/ana.10492 }}
{{refbegin|35em}}
*{{cite journal | author=Fertig E, Lincoln A, Martinuzzi A, ''et al.'' |title=Novel LGI1 mutation in a family with autosomal dominant partial epilepsy with auditory features. |journal=Neurology |volume=60 |issue= 10 |pages= 1687-90 |year= 2004 |pmid= 12771268 |doi= }}
* {{cite journal | vauthors = Staub E, Pérez-Tur J, Siebert R, Nobile C, Moschonas NK, Deloukas P, Hinzmann B | title = The novel EPTP repeat defines a superfamily of proteins implicated in epileptic disorders | journal = Trends in Biochemical Sciences | volume = 27 | issue = 9 | pages = 441–4 | date = Sep 2002 | pmid = 12217514 | doi = 10.1016/S0968-0004(02)02163-1 }}
*{{cite journal | author=Kunapuli P, Chitta KS, Cowell JK |title=Suppression of the cell proliferation and invasion phenotypes in glioma cells by the LGI1 gene. |journal=Oncogene |volume=22 |issue= 26 |pages= 3985-91 |year= 2003 |pmid= 12821932 |doi= 10.1038/sj.onc.1206584 }}
* {{cite journal | vauthors = Gu W, Brodtkorb E, Piepoli T, Finocchiaro G, Steinlein OK | title = LGI1: a gene involved in epileptogenesis and glioma progression? | journal = Neurogenetics | volume = 6 | issue = 2 | pages = 59–66 | date = May 2005 | pmid = 15827762 | doi = 10.1007/s10048-005-0216-5 }}
*{{cite journal | author=Clark HF, Gurney AL, Abaya E, ''et al.'' |title=The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. |journal=Genome Res. |volume=13 |issue= 10 |pages= 2265-70 |year= 2003 |pmid= 12975309 |doi= 10.1101/gr.1293003 }}
* {{cite journal | vauthors = Chernova OB, Somerville RP, Cowell JK | title = A novel gene, LGI1, from 10q24 is rearranged and downregulated in malignant brain tumors | journal = Oncogene | volume = 17 | issue = 22 | pages = 2873–81 | date = Dec 1998 | pmid = 9879993 | doi = 10.1038/sj.onc.1202481 }}
*{{cite journal | author=Hedera P, Abou-Khalil B, Crunk AE, ''et al.'' |title=Autosomal dominant lateral temporal epilepsy: two families with novel mutations in the LGI1 gene. |journal=Epilepsia |volume=45 |issue= 3 |pages= 218-22 |year= 2004 |pmid= 15009222 |doi= }}
* {{cite journal | vauthors = Morante-Redolat JM, Gorostidi-Pagola A, Piquer-Sirerol S, Sáenz A, Poza JJ, Galán J, Gesk S, Sarafidou T, Mautner VF, Binelli S, Staub E, Hinzmann B, French L, Prud'homme JF, Passarelli D, Scannapieco P, Tassinari CA, Avanzini G, Martí-Massó JF, Kluwe L, Deloukas P, Moschonas NK, Michelucci R, Siebert R, Nobile C, Pérez-Tur J, López de Munain A | title = Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy | journal = Human Molecular Genetics | volume = 11 | issue = 9 | pages = 1119–28 | date = May 2002 | pmid = 11978770 | doi = 10.1093/hmg/11.9.1119 }}
*{{cite journal | author=Kunapuli P, Kasyapa CS, Hawthorn L, Cowell JK |title=LGI1, a putative tumor metastasis suppressor gene, controls ''in vitro'' invasiveness and expression of matrix metalloproteinases in glioma cells through the ERK1/2 pathway. |journal=J. Biol. Chem. |volume=279 |issue= 22 |pages= 23151-7 |year= 2004 |pmid= 15047712 |doi= 10.1074/jbc. M314192200 }}
* {{cite journal | vauthors = Scheel H, Tomiuk S, Hofmann K | title = A common protein interaction domain links two recently identified epilepsy genes | journal = Human Molecular Genetics | volume = 11 | issue = 15 | pages = 1757–62 | date = Jul 2002 | pmid = 12095917 | doi = 10.1093/hmg/11.15.1757 }}
*{{cite journal | author=Berkovic SF, Izzillo P, McMahon JM, ''et al.'' |title=LGI1 mutations in temporal lobe epilepsies. |journal=Neurology |volume=62 |issue= 7 |pages= 1115-9 |year= 2004 |pmid= 15079010 |doi= }}
* {{cite journal | vauthors = Gu W, Brodtkorb E, Steinlein OK | title = LGI1 is mutated in familial temporal lobe epilepsy characterized by aphasic seizures | journal = Annals of Neurology | volume = 52 | issue = 3 | pages = 364–7 | date = Sep 2002 | pmid = 12205652 | doi = 10.1002/ana.10280 }}
*{{cite journal | author=Ottman R, Winawer MR, Kalachikov S, ''et al.'' |title=LGI1 mutations in autosomal dominant partial epilepsy with auditory features. |journal=Neurology |volume=62 |issue= 7 |pages= 1120-6 |year= 2004 |pmid= 15079011 |doi= }}
* {{cite journal | vauthors = Pizzuti A, Flex E, Di Bonaventura C, Dottorini T, Egeo G, Manfredi M, Dallapiccola B, Giallonardo AT | title = Epilepsy with auditory features: a LGI1 gene mutation suggests a loss-of-function mechanism | journal = Annals of Neurology | volume = 53 | issue = 3 | pages = 396–9 | date = Mar 2003 | pmid = 12601709 | doi = 10.1002/ana.10492 }}
*{{cite journal | author=Deloukas P, Earthrowl ME, Grafham DV, ''et al.'' |title=The DNA sequence and comparative analysis of human chromosome 10. |journal=Nature |volume=429 |issue= 6990 |pages= 375-81 |year= 2004 |pmid= 15164054 |doi= 10.1038/nature02462 }}
* {{cite journal | vauthors = Fertig E, Lincoln A, Martinuzzi A, Mattson RH, Hisama FM | title = Novel LGI1 mutation in a family with autosomal dominant partial epilepsy with auditory features | journal = Neurology | volume = 60 | issue = 10 | pages = 1687–90 | date = May 2003 | pmid = 12771268 | doi = 10.1212/01.wnl.0000063324.39980.4a }}
*{{cite journal | author=Bisulli F, Tinuper P, Scudellaro E, ''et al.'' |title=A de novo LGI1 mutation in sporadic partial epilepsy with auditory features. |journal=Ann. Neurol. |volume=56 |issue= 3 |pages= 455-6 |year= 2004 |pmid= 15349881 |doi= 10.1002/ana.20218 }}
* {{cite journal | vauthors = Kunapuli P, Chitta KS, Cowell JK | title = Suppression of the cell proliferation and invasion phenotypes in glioma cells by the LGI1 gene | journal = Oncogene | volume = 22 | issue = 26 | pages = 3985–91 | date = Jun 2003 | pmid = 12821932 | doi = 10.1038/sj.onc.1206584 }}
}}
* {{cite journal | vauthors = Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J, Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D, Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS, Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M, Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J, Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard A, Wood WI, Godowski P, Gray A | title = The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment | journal = Genome Research | volume = 13 | issue = 10 | pages = 2265–70 | date = Oct 2003 | pmid = 12975309 | pmc = 403697 | doi = 10.1101/gr.1293003 }}
* {{cite journal | vauthors = Hedera P, Abou-Khalil B, Crunk AE, Taylor KA, Haines JL, Sutcliffe JS | title = Autosomal dominant lateral temporal epilepsy: two families with novel mutations in the LGI1 gene | journal = Epilepsia | volume = 45 | issue = 3 | pages = 218–22 | date = Mar 2004 | pmid = 15009222 | doi = 10.1111/j.0013-9580.2004.47203.x }}
* {{cite journal | vauthors = Kunapuli P, Kasyapa CS, Hawthorn L, Cowell JK | title = LGI1, a putative tumor metastasis suppressor gene, controls in vitro invasiveness and expression of matrix metalloproteinases in glioma cells through the ERK1/2 pathway | journal = The Journal of Biological Chemistry | volume = 279 | issue = 22 | pages = 23151–7 | date = May 2004 | pmid = 15047712 | doi = 10.1074/jbc.M314192200 }}
* {{cite journal | vauthors = Berkovic SF, Izzillo P, McMahon JM, Harkin LA, McIntosh AM, Phillips HA, Briellmann RS, Wallace RH, Mazarib A, Neufeld MY, Korczyn AD, Scheffer IE, Mulley JC | title = LGI1 mutations in temporal lobe epilepsies | journal = Neurology | volume = 62 | issue = 7 | pages = 1115–9 | date = Apr 2004 | pmid = 15079010 | doi = 10.1212/01.wnl.0000118213.94650.81 }}
* {{cite journal | vauthors = Bisulli F, Tinuper P, Scudellaro E, Naldi I, Bagattin A, Avoni P, Michelucci R, Nobile C | title = A de novo LGI1 mutation in sporadic partial epilepsy with auditory features | journal = Annals of Neurology | volume = 56 | issue = 3 | pages = 455–6 | date = Sep 2004 | pmid = 15349881 | doi = 10.1002/ana.20218 }}
{{refend}}
{{refend}}


{{protein-stub}}
== External links ==
{{WikiDoc Sources}}
*[https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=peaf  GeneReviews/NCBI/NIH/UW entry on Autosomal Dominant Partial Epilepsy with Auditory Features]

Revision as of 17:54, 2 September 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Leucine-rich, glioma inactivated 1, also known as LGI1, is a protein which in humans is encoded by the LGI1 gene.[1] It may be a metastasis suppressor.

Function

The leucine-rich glioma inactivated -1 gene is rearranged as a result of translocations in glioblastoma cell lines. The protein contains a hydrophobic segment representing a putative transmembrane domain with the amino terminus located outside the cell. It also contains leucine-rich repeats with conserved cysteine-rich flanking sequences. This gene is predominantly expressed in neural tissues and its expression is reduced in low grade brain tumors and significantly reduced or absent in malignant gliomas.[1]

Clinical significance

Since its earliest discovery, the LGI1 gene has been implicated in the control of cancer metastasis and in a predisposition to epilepsy. Following genetic linkage studies placing the hereditary form of autosomal dominant partial epilepsy with Auditory features (ADPEAF) on chromosome region 10q24[2][3] mutation analysis of affected members in these families[4][5] demonstrated LGI1 was the cause of the disease.

More recently, LGI1 has been shown to be the major target of human autoantibodies[6][7][8] which immunoprecipitate voltage-gated potassium channel complexes from mammalian brain tissue. LGI1 antibodies are found in patients with limbic encephalitis and in patients with faciobrachial dystonic seizures (FBDS) FBDS are a recently described epilepsy which is characterised by frequent, brief seizures which affect the arm and face. They appear to be preferentially responsive to immunotherapy over anti-epileptic drugs.

Interactions

LGI1 has been shown to interact with ADAM22,[9] and DLG4.[9]

References

  1. ↑ 1.0 1.1 "Entrez Gene: LGI1 leucine-rich, glioma inactivated 1".
  2. ↑ Ottman R, Risch N, Hauser WA, Pedley TA, Lee JH, Barker-Cummings C, Lustenberger A, Nagle KJ, Lee KS, Scheuer ML (May 1995). "Localization of a gene for partial epilepsy to chromosome 10q". Nature Genetics. 10 (1): 56–60. doi:10.1038/ng0595-56. PMC 2823475. PMID 7647791.
  3. ↑ Wilson MH, Puranam RS, Ottman R, Gilliam C, Limbird LE, George AL, McNamara JO (Dec 1998). "Evaluation of the alpha(2A)-adrenergic receptor gene in a heritable form of temporal lobe epilepsy". Neurology. 51 (6): 1730–1. doi:10.1212/wnl.51.6.1730. PMID 9855534.
  4. ↑ Kalachikov S, Evgrafov O, Ross B, Winawer M, Barker-Cummings C, Martinelli Boneschi F, Choi C, Morozov P, Das K, Teplitskaya E, Yu A, Cayanis E, Penchaszadeh G, Kottmann AH, Pedley TA, Hauser WA, Ottman R, Gilliam TC (Mar 2002). "Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features". Nature Genetics. 30 (3): 335–41. doi:10.1038/ng832. PMC 2606053. PMID 11810107.
  5. ↑ Ottman R, Winawer MR, Kalachikov S, Barker-Cummings C, Gilliam TC, Pedley TA, Hauser WA (Apr 2004). "LGI1 mutations in autosomal dominant partial epilepsy with auditory features". Neurology. 62 (7): 1120–6. doi:10.1212/01.wnl.0000120098.39231.6e. PMC 1361770. PMID 15079011.
  6. ↑ Irani SR, Stagg CJ, Schott JM, Rosenthal CR, Schneider SA, Pettingill P, Pettingill R, Waters P, Thomas A, Voets NL, Cardoso MJ, Cash DM, Manning EN, Lang B, Smith SJ, Vincent A, Johnson MR (Oct 2013). "Faciobrachial dystonic seizures: the influence of immunotherapy on seizure control and prevention of cognitive impairment in a broadening phenotype". Brain. 136 (Pt 10): 3151–62. doi:10.1093/brain/awt212. PMID 24014519.
  7. ↑ Irani SR, Michell AW, Lang B, Pettingill P, Waters P, Johnson MR, Schott JM, Armstrong RJ, S Zagami A, Bleasel A, Somerville ER, Smith SM, Vincent A (May 2011). "Faciobrachial dystonic seizures precede Lgi1 antibody limbic encephalitis". Annals of Neurology. 69 (5): 892–900. doi:10.1002/ana.22307. PMID 21416487.
  8. ↑ Irani SR, Alexander S, Waters P, Kleopa KA, Pettingill P, Zuliani L, Peles E, Buckley C, Lang B, Vincent A (Sep 2010). "Antibodies to Kv1 potassium channel-complex proteins leucine-rich, glioma inactivated 1 protein and contactin-associated protein-2 in limbic encephalitis, Morvan's syndrome and acquired neuromyotonia". Brain. 133 (9): 2734–48. doi:10.1093/brain/awq213. PMC 2929337. PMID 20663977.
  9. ↑ 9.0 9.1 Fukata Y, Adesnik H, Iwanaga T, Bredt DS, Nicoll RA, Fukata M (Sep 2006). "Epilepsy-related ligand/receptor complex LGI1 and ADAM22 regulate synaptic transmission". Science. 313 (5794): 1792–5. doi:10.1126/science.1129947. PMID 16990550.

Further reading

  • Staub E, Pérez-Tur J, Siebert R, Nobile C, Moschonas NK, Deloukas P, Hinzmann B (Sep 2002). "The novel EPTP repeat defines a superfamily of proteins implicated in epileptic disorders". Trends in Biochemical Sciences. 27 (9): 441–4. doi:10.1016/S0968-0004(02)02163-1. PMID 12217514.
  • Gu W, Brodtkorb E, Piepoli T, Finocchiaro G, Steinlein OK (May 2005). "LGI1: a gene involved in epileptogenesis and glioma progression?". Neurogenetics. 6 (2): 59–66. doi:10.1007/s10048-005-0216-5. PMID 15827762.
  • Chernova OB, Somerville RP, Cowell JK (Dec 1998). "A novel gene, LGI1, from 10q24 is rearranged and downregulated in malignant brain tumors". Oncogene. 17 (22): 2873–81. doi:10.1038/sj.onc.1202481. PMID 9879993.
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External links

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