Publications:

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Molecular Neurobiology

Zhang, Yi Y; Wang, Tao T; Wang, Yan Y; Xia, Kun K; Li, Jinchen J; Sun, Zhongsheng Z

Publication Date: 2021-08

Variant appearance in text: KCNT1: 785G>A; R262Q

PubMed Link: 33860439

Variant Present in the following documents:

• 12035_2021_2377_MOESM14_ESM.xlsx, sheet 1

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Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients.

Frontiers In Neuroscience

Fernández-Marmiesse, Ana A; Roca, Iria I; Díaz-Flores, Felícitas F; Cantarín, Verónica V; Pérez-Poyato, Mª Socorro MS; Fontalba, Ana A; Laranjeira, Francisco F; Quintans, Sofia S; Moldovan, Oana O; Felgueroso, Blanca B; Rodríguez-Pedreira, Montserrat M; Simón, Rogelio R; Camacho, Ana A; Quijada, Pilar P; Ibanez-Mico, Salvador S; Domingno, Mª Rosario MR; Benito, Carmen C; Calvo, Rocío R; Pérez-Cejas, Antonia A; Carrasco, Mª Llanos ML; Ramos, Feliciano F; Couce, Mª Luz ML; Ruiz-Falcó, Mª Luz ML; Gutierrez-Solana, Luis L; Martínez-Atienza, Margarita M

Publication Date: 2019

Variant appearance in text: KCNT1: 785G>A; R262Q

PubMed Link: 31780880

Variant Present in the following documents:

• Main text
• fnins-13-01135.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: KCNT1: 785G>A; Arg262Gln

PubMed Link: 28864458

Variant Present in the following documents:

• supp_gr.226589.117_Supplemental_Data_S1.xlsx, sheet 1

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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: KCNT1: R262Q

PubMed Link: 28488083

Variant Present in the following documents:

• Main text

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Mutations in KCNT1 cause a spectrum of focal epilepsies.

Epilepsia

Møller, Rikke S RS; Heron, Sarah E SE; Larsen, Line H G LH; Lim, Chiao Xin CX; Ricos, Michael G MG; Bayly, Marta A MA; van Kempen, Marjan J A MJ; Klinkenberg, Sylvia S; Andrews, Ian I; Kelley, Kent K; Ronen, Gabriel M GM; Callen, David D; McMahon, Jacinta M JM; Yendle, Simone C SC; Carvill, Gemma L GL; Mefford, Heather C HC; Nabbout, Rima R; Poduri, Annapurna A; Striano, Pasquale P; Baglietto, Maria G MG; Zara, Federico F; Smith, Nicholas J NJ; Pridmore, Clair C; Gardella, Elena E; Nikanorova, Marina M; Dahl, Hans Atli HA; Gellert, Pia P; Scheffer, Ingrid E IE; Gunning, Boudewijn B; Kragh-Olsen, Bente B; Dibbens, Leanne M LM

Publication Date: 2015-09

Variant appearance in text: KCNT1: 785G>A; Arg262Gln

PubMed Link: 26122718

Variant Present in the following documents:

• Main text

View BVdb publication page