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: KCNQ2: 812G>T; Gly271Val

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Predicting the functional effects of voltage-gated potassium channel missense variants with multi-task learning.

Ebiomedicine

Boßelmann, Christian Malte CM; Hedrich, Ulrike B S UBS; Müller, Peter P; Sonnenberg, Lukas L; Parthasarathy, Shridhar S; Helbig, Ingo I; Lerche, Holger H; Pfeifer, Nico N

Publication Date: 2022-07

Variant appearance in text: Kv7.2: G271V

PubMed Link: 35759918

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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KCNQ2 Selectivity Filter Mutations Cause Kv7.2 M-Current Dysfunction and Configuration Changes Manifesting as Epileptic Encephalopathies and Autistic Spectrum Disorders.

Cells

Lee, Inn-Chi IC; Yang, Jiann-Jou JJ; Liou, Ying-Ming YM; Wong, Swee-Hee SH

Publication Date: 2022-03-05

Variant appearance in text: KCNQ2: Gly271Val

PubMed Link: 35269516

Variant Present in the following documents:

• Main text
• cells-11-00894.pdf

View BVdb publication page

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Physiology and Therapeutic Potential of SK, H, and M Medium AfterHyperPolarization Ion Channels.

Frontiers In Molecular Neuroscience

Dwivedi, Deepanjali D; Bhalla, Upinder S US

Publication Date: 2021

Variant appearance in text: Kv7.2: G271V

PubMed Link: 34149352

Variant Present in the following documents:

• fnmol-14-658435.pdf

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Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants.

Neurology. Genetics

Malerba, Federica F; Alberini, Giulio G; Balagura, Ganna G; Marchese, Francesca F; Amadori, Elisabetta E; Riva, Antonella A; Vari, Maria Stella MS; Gennaro, Elena E; Madia, Francesca F; Salpietro, Vincenzo V; Angriman, Marco M; Giordano, Lucio L; Accorsi, Patrizia P; Trivisano, Marina M; Specchio, Nicola N; Russo, Angelo A; Gobbi, Giuseppe G; Raviglione, Federico F; Pisano, Tiziana T; Marini, Carla C; Mancardi, Maria M MM; Nobili, Lino L; Freri, Elena E; Castellotti, Barbara B; Capovilla, Giuseppe G; Coppola, Antonietta A; Verrotti, Alberto A; Martelli, Paola P; Miceli, Francesco F; Maragliano, Luca L; Benfenati, Fabio F; Cilio, Maria R MR; Johannesen, Kathrine M KM; Møller, Rikke S RS; Ceulemans, Berten B; Minetti, Carlo C; Weckhuysen, Sarah S; Zara, Federico F; Taglialatela, Maurizio M; Striano, Pasquale P

Publication Date: 2020-12

Variant appearance in text: Kv7.2: 812G>T

PubMed Link: 33659638

Variant Present in the following documents:

• Main text
• NG2020015198.pdf

View BVdb publication page

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Identifying mutation hotspots reveals pathogenetic mechanisms of KCNQ2 epileptic encephalopathy.

Scientific Reports

Zhang, Jiaren J; Kim, Eung Chang EC; Chen, Congcong C; Procko, Erik E; Pant, Shashank S; Lam, Kin K; Patel, Jaimin J; Choi, Rebecca R; Hong, Mary M; Joshi, Dhruv D; Bolton, Eric E; Tajkhorshid, Emad E; Chung, Hee Jung HJ

Publication Date: 2020-03-16

Variant appearance in text: Kv7.2: 812G>T

PubMed Link: 32179837

Variant Present in the following documents:

• 41598_2020_61697_MOESM2_ESM.pdf

View BVdb publication page

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A de novo KCNQ2 Gene Mutation Associated With Non-familial Early Onset Seizures: Case Report and Revision of Literature Data.

Frontiers In Pediatrics

Laccetta, Gianluigi G; Fiori, Simona S; Giampietri, Matteo M; Ferrari, Annarita A; Cetica, Valentina V; Bernardini, Manuela M; Chesi, Francesca F; Mazzotti, Sara S; Parrini, Elena E; Ciantelli, Massimiliano M; Guzzetta, Andrea A; Ghirri, Paolo P

Publication Date: 2019

Variant appearance in text: KCNQ2: 812G>T; G271V

PubMed Link: 31552204

Variant Present in the following documents:

• Main text
• fped-07-00348.pdf

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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: KCNQ2: 812G>T; Gly271Val

PubMed Link: 28864458

Variant Present in the following documents:

• supp_gr.226589.117_Supplemental_Data_S1.xlsx, sheet 1

View BVdb publication page

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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: KCNQ2: 812G>T; G271V

PubMed Link: 28717674

Variant Present in the following documents:

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

View BVdb publication page

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Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.

Neuroscience Bulletin

Wei, Feng F; Yan, Li-Min LM; Su, Tao T; He, Na N; Lin, Zhi-Jian ZJ; Wang, Jie J; Shi, Yi-Wu YW; Yi, Yong-Hong YH; Liao, Wei-Ping WP

Publication Date: 2017-08

Variant appearance in text: KCNQ2: G271V

PubMed Link: 28488083

Variant Present in the following documents:

• Main text

View BVdb publication page

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Calmodulin regulates KCNQ2 function in epilepsy.

American Journal Of Translational Research

Zhou, Xuhong X; Zhuang, Fei F; Li, Hong H; Zheng, Kun K; Hong, Ze Z; Feng, Weijing W; Zhou, Wendi W; Chen, Jian J

Publication Date: 2016

Variant appearance in text: Kv7.2: G271V

PubMed Link: 28078031

Variant Present in the following documents:

• Main text

View BVdb publication page

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Targeted Treatment in Childhood Epilepsy Syndromes.

Current Treatment Options In Neurology

Vezyroglou, Katharina K; Cross, J Helen JH

Publication Date: 2016-06

Variant appearance in text: Kv7.2: G271V

PubMed Link: 27154366

Variant Present in the following documents:

• 11940_2016_Article_407.pdf

View BVdb publication page

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Site-directed mutagenesis of neonatal convulsions associated KCNQ2 gene and its protein expression.

Translational Pediatrics

Zhou, Xi-Hui XH; Hui, Zhi-Yan ZY; Shi, Rui-Ming RM; Song, Hong-Xia HX; Zhang, Wei W; Liu, Li L

Publication Date: 2012-10

Variant appearance in text: KCNQ2: 812G>T; G271V

PubMed Link: 26835270

Variant Present in the following documents:

• Main text

View BVdb publication page

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