Publications:

---

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: 1057C>G; Arg353Gly

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

KCNQ2-Related Neonatal Epilepsy Treated With Vitamin B6: A Report of Two Cases and Literature Review.

Frontiers In Neurology

Amore, Greta G; Butera, Ambra A; Spoto, Giulia G; Valentini, Giulia G; Saia, Maria Concetta MC; Salpietro, Vincenzo V; Calì, Francesco F; Di Rosa, Gabriella G; Nicotera, Antonio Gennaro AG

Publication Date: 2022

Variant appearance in text: KCNQ2: 1057C>G

PubMed Link: 35401395

Variant Present in the following documents:

• Main text
• fneur-13-826225.pdf

View BVdb publication page

---

Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants.

Molecular Genetics & Genomic Medicine

Frisk, Sofia S; Wachtmeister, Alexandra A; Laurell, Tobias T; Lindstrand, Anna A; Jäntti, Nina N; Malmgren, Helena H; Lagerstedt-Robinson, Kristina K; Tesi, Bianca B; Taylan, Fulya F; Nordgren, Ann A

Publication Date: 2022-04

Variant appearance in text: KCNQ2: 1057C>G; Arg353Gly

PubMed Link: 35118825

Variant Present in the following documents:

• Main text
• MGG3-10-e1880.pdf

View BVdb publication page

---

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.

Genome Medicine

Stranneheim, Henrik H; Lagerstedt-Robinson, Kristina K; Magnusson, Måns M; Kvarnung, Malin M; Nilsson, Daniel D; Lesko, Nicole N; Engvall, Martin M; Anderlid, Britt-Marie BM; Arnell, Henrik H; Johansson, Carolina Backman CB; Barbaro, Michela M; Björck, Erik E; Bruhn, Helene H; Eisfeldt, Jesper J; Freyer, Christoph C; Grigelioniene, Giedre G; Gustavsson, Peter P; Hammarsjö, Anna A; Hellström-Pigg, Maritta M; Iwarsson, Erik E; Jemt, Anders A; Laaksonen, Mikael M; Enoksson, Sara Lind SL; Malmgren, Helena H; Naess, Karin K; Nordenskjöld, Magnus M; Oscarson, Mikael M; Pettersson, Maria M; Rasi, Chiara C; Rosenbaum, Adam A; Sahlin, Ellika E; Sardh, Eliane E; Stödberg, Tommy T; Tesi, Bianca B; Tham, Emma E; Thonberg, Håkan H; Töhönen, Virpi V; von Döbeln, Ulrika U; Vassiliou, Daphne D; Vonlanthen, Sofie S; Wikström, Ann-Charlotte AC; Wincent, Josephine J; Winqvist, Ola O; Wredenberg, Anna A; Ygberg, Sofia S; Zetterström, Rolf H RH; Marits, Per P; Soller, Maria Johansson MJ; Nordgren, Ann A; Wirta, Valtteri V; Lindstrand, Anna A; Wedell, Anna A

Publication Date: 2021-03-17

Variant appearance in text: KCNQ2: 1057C>G; Arg353Gly

PubMed Link: 33726816

Variant Present in the following documents:

• 13073_2021_855_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

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: R353G

PubMed Link: 32179837

Variant Present in the following documents:

• 41598_2020_61697_MOESM2_ESM.pdf

View BVdb publication page

---

The Crossroad of Ion Channels and Calmodulin in Disease.

International Journal Of Molecular Sciences

Urrutia, Janire J; Aguado, Alejandra A; Muguruza-Montero, Arantza A; Núñez, Eider E; Malo, Covadonga C; Casis, Oscar O; Villarroel, Alvaro A

Publication Date: 2019-01-18

Variant appearance in text: KCNQ2: R353G

PubMed Link: 30669290

Variant Present in the following documents:

• Main text
• ijms-20-00400.pdf

View BVdb publication page

---

Lack of correlation between surface expression and currents in epileptogenic AB-calmodulin binding domain Kv7.2 potassium channel mutants.

Channels (Austin, Tex.)

Alaimo, Alessandro A; Etxeberria, Ainhoa A; Gómez-Posada, Juan Camilo JC; Gomis-Perez, Carolina C; Fernández-Orth, Juncal J; Malo, Covadonga C; Villarroel, Alvaro A

Publication Date: 2018

Variant appearance in text: Kv7.2: R353G

PubMed Link: 30126342

Variant Present in the following documents:

• Main text
• kchl-12-01-1511512.pdf

View BVdb publication page

---

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: 1057C>G; Arg353Gly

PubMed Link: 28864458

Variant Present in the following documents:

• supp_gr.226589.117_Supplemental_Data_S1.xlsx, sheet 1

View BVdb publication page

---

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: 1057C>G; R353G

PubMed Link: 28717674

Variant Present in the following documents:

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

View BVdb publication page

---

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: R353G

PubMed Link: 28488083

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: KCNQ2: R353G

PubMed Link: 28078031

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Protein arginine methylation facilitates KCNQ channel-PIP2 interaction leading to seizure suppression.

Elife

Kim, Hyun-Ji HJ; Jeong, Myong-Ho MH; Kim, Kyung-Ran KR; Jung, Chang-Yun CY; Lee, Seul-Yi SY; Kim, Hanna H; Koh, Jewoo J; Vuong, Tuan Anh TA; Jung, Seungmoon S; Yang, Hyunwoo H; Park, Su-Kyung SK; Choi, Dahee D; Kim, Sung Hun SH; Kang, KyeongJin K; Sohn, Jong-Woo JW; Park, Joo Min JM; Jeon, Daejong D; Koo, Seung-Hoi SH; Ho, Won-Kyung WK; Kang, Jong-Sun JS; Kim, Seong-Tae ST; Cho, Hana H

Publication Date: 2016-07-28

Variant appearance in text: KCNQ2: R353G

PubMed Link: 27466704

Variant Present in the following documents:

• Main text
• elife-17159.pdf

View BVdb publication page

---

The Role of the Carboxyl Terminus Helix C-D Linker in Regulating KCNQ3 K+ Current Amplitudes by Controlling Channel Trafficking.

Plos One

Choveau, Frank S FS; Zhang, Jie J; Bierbower, Sonya M SM; Sharma, Ramaswamy R; Shapiro, Mark S MS

Publication Date: 2015

Variant appearance in text: KCNQ2: R353G

PubMed Link: 26692086

Variant Present in the following documents:

• Main text
• pone.0145367.pdf

View BVdb publication page

---

Polarized axonal surface expression of neuronal KCNQ potassium channels is regulated by calmodulin interaction with KCNQ2 subunit.

Plos One

Cavaretta, John P JP; Sherer, Kaitlyn R KR; Lee, Kwan Young KY; Kim, Edward H EH; Issema, Rodal S RS; Chung, Hee Jung HJ

Publication Date: 2014

Variant appearance in text: KCNQ2: R353G

PubMed Link: 25077630

Variant Present in the following documents:

• Main text
• pone.0103655.pdf

View BVdb publication page

---

Pivoting between calmodulin lobes triggered by calcium in the Kv7.2/calmodulin complex.

Plos One

Alaimo, Alessandro A; Alberdi, Araitz A; Gomis-Perez, Carolina C; Fernández-Orth, Juncal J; Bernardo-Seisdedos, Ganeko G; Malo, Covadonga C; Millet, Oscar O; Areso, Pilar P; Villarroel, Alvaro A

Publication Date: 2014

Variant appearance in text: Kv7.2: R353G

PubMed Link: 24489773

Variant Present in the following documents:

• Main text

View BVdb publication page

---

A change in configuration of the calmodulin-KCNQ channel complex underlies Ca2+-dependent modulation of KCNQ channel activity.

Plos One

Kosenko, Anastasia A; Hoshi, Naoto N

Publication Date: 2013

Variant appearance in text: KCNQ2: R353G

PubMed Link: 24349250

Variant Present in the following documents:

• Main text
• pone.0082290.pdf

View BVdb publication page

---

Trafficking mechanisms underlying neuronal voltage-gated ion channel localization at the axon initial segment.

Epilepsia

Vacher, Helene H; Trimmer, James S JS

Publication Date: 2012-12

Variant appearance in text: Kv7.2: R353G

PubMed Link: 23216576

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Coordinated signal integration at the M-type potassium channel upon muscarinic stimulation.

The Embo Journal

Kosenko, Anastasia A; Kang, Seungwoo S; Smith, Ida M IM; Greene, Derek L DL; Langeberg, Lorene K LK; Scott, John D JD; Hoshi, Naoto N

Publication Date: 2012-05-29

Variant appearance in text: KCNQ2: R353G

PubMed Link: 22643219

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Calmodulin activation limits the rate of KCNQ2 K+ channel exit from the endoplasmic reticulum.

The Journal Of Biological Chemistry

Alaimo, Alessandro A; Gómez-Posada, Juan Camilo JC; Aivar, Paloma P; Etxeberría, Ainhoa A; Rodriguez-Alfaro, Jose Angel JA; Areso, Pilar P; Villarroel, Alvaro A

Publication Date: 2009-07-31

Variant appearance in text: KCNQ2: R353G

PubMed Link: 19494108

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Nervous system KV7 disorders: breakdown of a subthreshold brake.

The Journal Of Physiology

Maljevic, Snezana S; Wuttke, Thomas V TV; Lerche, Holger H

Publication Date: 2008-04-01

Variant appearance in text: KCNQ2: R353G

PubMed Link: 18238816

Variant Present in the following documents:

• Main text

View BVdb publication page

---