KCNQ2 c.613A>G ;(p.I205V)

Variant ID: 20-62076089-T-C

NM_172107.2(KCNQ2):c.613A>G;(p.I205V)

This variant was identified in 10 publications

View GRCh38 version.




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: 613A>G; Ile205Val
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



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: Kv7.2: I205V
PubMed Link: 36102617
Variant Present in the following documents:
  • develop-149-198853-s1.pdf
View BVdb publication page



Mouse models of Kcnq2 dysfunction.

Epilepsia
Brun, Lucile L; Viemari, Jean-Charles JC; Villard, Laurent L
Publication Date: 2022-11

Variant appearance in text: KCNQ2: I205V
PubMed Link: 36047730
Variant Present in the following documents:
  • Main text
  • EPI-63-2813.pdf
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: 613A>G
PubMed Link: 35401395
Variant Present in the following documents:
  • Main text
  • fneur-13-826225.pdf
View BVdb publication page



Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances
Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X
Publication Date: 2020-07

Variant appearance in text: KCNQ2: 613A>G; Ile205Val
PubMed Link: 32832622
Variant Present in the following documents:
  • aba1773_Data_file_S1.xlsx, sheet 2
  • aba1773_Data_file_S1.xlsx, sheet 3
View BVdb publication page



A knock-in mouse model for KCNQ2-related epileptic encephalopathy displays spontaneous generalized seizures and cognitive impairment.

Epilepsia
Milh, Mathieu M; Roubertoux, Pierre P; Biba, Najoua N; Chavany, Julie J; Spiga Ghata, Adeline A; Fulachier, Camille C; Collins, Stephan Christopher SC; Wagner, Christel C; Roux, Jean-Christophe JC; Yalcin, Binnaz B; Félix, Marie-Solenne MS; Molinari, Florence F; Lenck-Santini, Pierre-Pascal PP; Villard, Laurent L
Publication Date: 2020-05

Variant appearance in text: KCNQ2: Ile205Val
PubMed Link: 32239694
Variant Present in the following documents:
  • Main text
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: 613A>G
PubMed Link: 32179837
Variant Present in the following documents:
  • 41598_2020_61697_MOESM2_ESM.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: 613A>G; Ile205Val
PubMed Link: 28864458
Variant Present in the following documents:
  • supp_gr.226589.117_Supplemental_Data_S1.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: I205V
PubMed Link: 28488083
Variant Present in the following documents:
  • Main text
View BVdb publication page



Epilepsy-Associated KCNQ2 Channels Regulate Multiple Intrinsic Properties of Layer 2/3 Pyramidal Neurons.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Niday, Zachary Z; Hawkins, Virginia E VE; Soh, Heun H; Mulkey, Daniel K DK; Tzingounis, Anastasios V AV
Publication Date: 2017-01-18

Variant appearance in text: KCNQ2: I205V
PubMed Link: 28100740
Variant Present in the following documents:
  • Main text
View BVdb publication page