Publications:

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Calcium and activity-dependent signaling in the developing cerebral cortex.

Development (Cambridge, England)

Arjun McKinney, Arpana A; Petrova, Ralitsa R; Panagiotakos, Georgia G

Publication Date: 2022-09-01

Variant appearance in text: Kv7.3: R330L

PubMed Link: 36102617

Variant Present in the following documents:

• develop-149-198853-s1.pdf

View BVdb publication page

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A Novel Kv7.3 Variant in the Voltage-Sensing S4 Segment in a Family With Benign Neonatal Epilepsy: Functional Characterization and in vitro Rescue by β-Hydroxybutyrate.

Frontiers In Physiology

Miceli, Francesco F; Carotenuto, Lidia L; Barrese, Vincenzo V; Soldovieri, Maria Virginia MV; Heinzen, Erin L EL; Mandel, Arthur M AM; Lippa, Natalie N; Bier, Louise L; Goldstein, David B DB; Cooper, Edward C EC; Cilio, Maria Roberta MR; Taglialatela, Maurizio M; Sands, Tristan T TT

Publication Date: 2020

Variant appearance in text: Kv7.3: R330L

PubMed Link: 33013448

Variant Present in the following documents:

• Main text
• fphys-11-01040.pdf

View BVdb publication page

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Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Nature Communications

Wang, Tianyun T; Hoekzema, Kendra K; Vecchio, Davide D; Wu, Huidan H; Sulovari, Arvis A; Coe, Bradley P BP; Gillentine, Madelyn A MA; Wilfert, Amy B AB; Perez-Jurado, Luis A LA; Kvarnung, Malin M; Sleyp, Yoeri Y; Earl, Rachel K RK; Rosenfeld, Jill A JA; Geisheker, Madeleine R MR; Han, Lin L; Du, Bing B; Barnett, Chris C; Thompson, Elizabeth E; Shaw, Marie M; Carroll, Renee R; Friend, Kathryn K; Catford, Rachael R; Palmer, Elizabeth E EE; Zou, Xiaobing X; Ou, Jianjun J; Li, Honghui H; Guo, Hui H; Gerdts, Jennifer J; Avola, Emanuela E; Calabrese, Giuseppe G; Elia, Maurizio M; Greco, Donatella D; Lindstrand, Anna A; Nordgren, Ann A; Anderlid, Britt-Marie BM; Vandeweyer, Geert G; Van Dijck, Anke A; Van der Aa, Nathalie N; McKenna, Brooke B; Hancarova, Miroslava M; Bendova, Sarka S; Havlovicova, Marketa M; Malerba, Giovanni G; Bernardina, Bernardo Dalla BD; Muglia, Pierandrea P; van Haeringen, Arie A; Hoffer, Mariette J V MJV; Franke, Barbara B; Cappuccio, Gerarda G; Delatycki, Martin M; Lockhart, Paul J PJ; Manning, Melanie A MA; Liu, Pengfei P; Scheffer, Ingrid E IE; Brunetti-Pierri, Nicola N; Rommelse, Nanda N; Amaral, David G DG; Santen, Gijs W E GWE; Trabetti, Elisabetta E; Sedláček, Zdeněk Z; Michaelson, Jacob J JJ; Pierce, Karen K; Courchesne, Eric E; Kooy, R Frank RF; , ; Nordenskjöld, Magnus M; Romano, Corrado C; Peeters, Hilde H; Bernier, Raphael A RA; Gecz, Jozef J; Xia, Kun K; Eichler, Evan E EE

Publication Date: 2020-10-01

Variant appearance in text: KCNQ3: 989G>T; Arg330Leu

PubMed Link: 33004838

Variant Present in the following documents:

• 41467_2020_18723_MOESM16_ESM.xlsx, sheet 1
• 41467_2020_18723_MOESM7_ESM.xlsx, sheet 1
• 41467_2020_18723_MOESM5_ESM.xlsx, sheet 1

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Intellectual Disability and Potassium Channelopathies: A Systematic Review.

Frontiers In Genetics

Kessi, Miriam M; Chen, Baiyu B; Peng, Jing J; Tang, Yulin Y; Olatoutou, Eleonore E; He, Fang F; Yang, Lifen L; Yin, Fei F

Publication Date: 2020

Variant appearance in text: Kv7.3: R330L

PubMed Link: 32655623

Variant Present in the following documents:

• Main text
• fgene-11-00614.pdf

View BVdb publication page

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Genetic variations associated with pharmacoresistant epilepsy (Review).

Molecular Medicine Reports

Cárdenas-Rodríguez, Noemí N; Carmona-Aparicio, Liliana L; Pérez-Lozano, Diana L DL; Ortega-Cuellar, Daniel D; Gómez-Manzo, Saúl S; Ignacio-Mejía, Iván I

Publication Date: 2020-04

Variant appearance in text: KCNQ3: 989G>T

PubMed Link: 32319641

Variant Present in the following documents:

• Main text
• mmr-21-04-1685.pdf

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: KCNQ3: R330L

PubMed Link: 28488083

Variant Present in the following documents:

• Main text

View BVdb publication page

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: KCNQ3: R330L

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

View BVdb publication page

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Potassium Channels and Human Epileptic Phenotypes: An Updated Overview.

Frontiers In Cellular Neuroscience

Villa, Chiara C; Combi, Romina R

Publication Date: 2016

Variant appearance in text: Kv7.3: Arg330Leu

PubMed Link: 27064559

Variant Present in the following documents:

• Main text
• fncel-10-00081.pdf

View BVdb publication page

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