Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: LGI1: 1148A>C; Glu383Ala

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Disruption of the Ubiquitin-Proteasome System and Elevated Endoplasmic Reticulum Stress in Epilepsy.

Biomedicines

Poliquin, Sarah S; Kang, Jing-Qiong JQ

Publication Date: 2022-03-11

Variant appearance in text: LGI1: E383A

PubMed Link: 35327449

Variant Present in the following documents:

• Main text
• biomedicines-10-00647.pdf

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A novel LGI1 mutation causing autosomal dominant lateral temporal lobe epilepsy confirmed by a precise knock-in mouse model.

Cns Neuroscience & Therapeutics

Hu, Ping P; Wu, Dan D; Zang, Yan-Yu YY; Wang, Yan Y; Zhou, Ya-Ping YP; Qiao, Fengchang F; Teng, Xiao-Yu XY; Chen, Jiang J; Li, Qing-Qing QQ; Sun, Jia-Hui JH; Liu, TingTing T; Feng, Hao-Yang HY; Zhou, Qi-Gang QG; Shi, Yun Stone YS; Xu, Zhengfeng Z

Publication Date: 2022-02

Variant appearance in text: LGI1: E383A

PubMed Link: 34767694

Variant Present in the following documents:

• Main text
• CNS-28-237.pdf

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Structural basis of epilepsy-related ligand-receptor complex LGI1-ADAM22.

Nature Communications

Yamagata, Atsushi A; Miyazaki, Yuri Y; Yokoi, Norihiko N; Shigematsu, Hideki H; Sato, Yusuke Y; Goto-Ito, Sakurako S; Maeda, Asami A; Goto, Teppei T; Sanbo, Makoto M; Hirabayashi, Masumi M; Shirouzu, Mikako M; Fukata, Yuko Y; Fukata, Masaki M; Fukai, Shuya S

Publication Date: 2018-04-18

Variant appearance in text: LGI1: E383A

PubMed Link: 29670100

Variant Present in the following documents:

• Main text
• 41467_2018_Article_3947.pdf
• 41467_2018_3947_MOESM1_ESM.pdf

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Celecoxib Ameliorates Seizure Susceptibility in Autosomal Dominant Lateral Temporal Epilepsy.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience

Zhou, Lin L; Zhou, Liang L; Su, Li-da LD; Cao, Sheng-Long SL; Xie, Ya-Jun YJ; Wang, Na N; Shao, Chong-Yu CY; Wang, Ya-Nan YN; Zhou, Jia-Huan JH; Cowell, John K JK; Shen, Ying Y

Publication Date: 2018-03-28

Variant appearance in text: LGI1: E383A

PubMed Link: 29491011

Variant Present in the following documents:

• Main text

View BVdb publication page

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Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.

Genome Research

Traynelis, Joshua J; Silk, Michael M; Wang, Quanli Q; Berkovic, Samuel F SF; Liu, Liping L; Ascher, David B DB; Balding, David J DJ; Petrovski, Slavé S

Publication Date: 2017-10

Variant appearance in text: LGI1: 1148A>C; Glu383Ala

PubMed Link: 28864458

Variant Present in the following documents:

• supp_gr.226589.117_Supplemental_Data_S1.xlsx, sheet 1

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ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies.

Neurology. Genetics

Bennett, Caitlin A CA; Petrovski, Slavé S; Oliver, Karen L KL; Berkovic, Samuel F SF

Publication Date: 2017-08

Variant appearance in text: LGI1: E383A

PubMed Link: 28717674

Variant Present in the following documents:

• supp_3.4.e163_Table_e-1.xlsx, sheet 2

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs28937874

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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"Fold Here"-Chemical Correctors in the Treatment of Epilepsy.

Epilepsy Currents

Hartman, Adam L AL

Publication Date: 2015

Variant appearance in text: LGI1: E383A

PubMed Link: 26633957

Variant Present in the following documents:

• Main text

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: LGI1: E383A

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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K(+) channelepsy: progress in the neurobiology of potassium channels and epilepsy.

Frontiers In Cellular Neuroscience

D'Adamo, Maria Cristina MC; Catacuzzeno, Luigi L; Di Giovanni, Giuseppe G; Franciolini, Fabio F; Pessia, Mauro M

Publication Date: 2013-09-13

Variant appearance in text: LGI1: E383A

PubMed Link: 24062639

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetics of temporal lobe epilepsy: a review.

Epilepsy Research And Treatment

Salzmann, Annick A; Malafosse, Alain A

Publication Date: 2012

Variant appearance in text: LGI1: 1148A>C; Glu383Ala; rs28937874

PubMed Link: 22957248

Variant Present in the following documents:

• Main text
• ERT2012-863702.pdf

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A computational model of the LGI1 protein suggests a common binding site for ADAM proteins.

Plos One

Leonardi, Emanuela E; Andreazza, Simonetta S; Vanin, Stefano S; Busolin, Giorgia G; Nobile, Carlo C; Tosatto, Silvio C E SC

Publication Date: 2011-03-29

Variant appearance in text: LGI1: E383A; rs28937874

PubMed Link: 21479274

Variant Present in the following documents:

• Main text

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Similarity of molecular phenotype between known epilepsy gene LGI1 and disease candidate gene LGI2.

Bmc Biochemistry

Limviphuvadh, Vachiranee V; Chua, Ling Ling LL; Rahim, Rabi Atul Adawiyah Bte RA; Eisenhaber, Frank F; Maurer-Stroh, Sebastian S; Adhikari, Sharmila S

Publication Date: 2010-09-24

Variant appearance in text: LGI1: E383A

PubMed Link: 20863412

Variant Present in the following documents:

• Main text
• 1471-2091-11-39.pdf

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Disruption of LGI1-linked synaptic complex causes abnormal synaptic transmission and epilepsy.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Fukata, Yuko Y; Lovero, Kathryn L KL; Iwanaga, Tsuyoshi T; Watanabe, Atsushi A; Yokoi, Norihiko N; Tabuchi, Katsuhiko K; Shigemoto, Ryuichi R; Nicoll, Roger A RA; Fukata, Masaki M

Publication Date: 2010-02-23

Variant appearance in text: LGI1: E383A

PubMed Link: 20133599

Variant Present in the following documents:

• Main text

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Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features.

Nature Genetics

Kalachikov, Sergey S; Evgrafov, Oleg O; Ross, Barbara B; Winawer, Melodie M; Barker-Cummings, Christie C; Martinelli Boneschi, Filippo F; Choi, Chang C; Morozov, Pavel P; Das, Kamna K; Teplitskaya, Elita E; Yu, Andrew A; Cayanis, Eftihia E; Penchaszadeh, Graciela G; Kottmann, Andreas H AH; Pedley, Timothy A TA; Hauser, W Allen WA; Ottman, Ruth R; Gilliam, T Conrad TC

Publication Date: 2002-03

Variant appearance in text: LGI1: Glu383Ala

PubMed Link: 11810107

Variant Present in the following documents:

• Main text

View BVdb publication page

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