Publications:

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Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics

Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2022-09

Variant appearance in text: KCNT1: 1887G>C; K629N

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Double-edged Role of KNa Channels in Brain Tuning: Identifying Epileptogenic Network Micro-Macro Disconnection.

Current Neuropharmacology

Liu, Ru R; Sun, Lei L; Wang, Yunfu Y; Jia, Meng M; Wang, Qun Q; Cai, Xiang X; Wu, Jianping J

Publication Date: 2022

Variant appearance in text: KCNT1: Lys629Asn

PubMed Link: 34911427

Variant Present in the following documents:

• CN-20-916.pdf

View BVdb publication page

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Precision medicine and therapies of the future.

Epilepsia

Sisodiya, Sanjay M SM

Publication Date: 2021-03

Variant appearance in text: KCNT1: 1887G>C; K629N

PubMed Link: 32776321

Variant Present in the following documents:

• Main text
• EPI-62-S90.pdf

View BVdb publication page

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The Epilepsy of Infancy With Migrating Focal Seizures: Identification of de novo Mutations of the KCNT2 Gene That Exert Inhibitory Effects on the Corresponding Heteromeric KNa1.1/KNa1.2 Potassium Channel.

Frontiers In Cellular Neuroscience

Mao, Xiao X; Bruneau, Nadine N; Gao, Quwen Q; Becq, Hélène H; Jia, Zhengjun Z; Xi, Hui H; Shu, Li L; Wang, Hua H; Szepetowski, Pierre P; Aniksztejn, Laurent L

Publication Date: 2020

Variant appearance in text: Slo2.2: Lys629Asn

PubMed Link: 32038177

Variant Present in the following documents:

• Main text
• fncel-14-00001.pdf

View BVdb publication page

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Two South Indian Children with KCNT1-Related Malignant Migrating Focal Seizures of Infancy - Clinical Characteristics and Outcome of Targeted Treatment with Quinidine.

Annals Of Indian Academy Of Neurology

Patil, Abhijit Anil AA; Vinayan, K P KP; Roy, Arun Grace AG

Publication Date: 2019

Variant appearance in text: KCNT1: 1887G>C; K629N

PubMed Link: 31359944

Variant Present in the following documents:

• AIAN-22-311.pdf

View BVdb publication page

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Quinidine Therapy for Lennox-Gastaut Syndrome With KCNT1 Mutation. A Case Report and Literature Review.

Frontiers In Neurology

Jia, Yu Y; Lin, Yicong Y; Li, Jing J; Li, Mingyu M; Zhang, Yifan Y; Hou, Yue Y; Liu, Aihua A; Zhang, Liping L; Li, Liping L; Xiang, Peng P; Ye, Jing J; Huang, Zhaoyang Z; Wang, Yuping Y

Publication Date: 2019

Variant appearance in text: KCNT1: 1887G>C; K629N

PubMed Link: 30804880

Variant Present in the following documents:

• Main text
• fneur-10-00064.pdf

View BVdb publication page

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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: 1887G>C; Lys629Asn

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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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: K629N

PubMed Link: 28488083

Variant Present in the following documents:

• Main text

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: KCNT1: Lys629Asn

PubMed Link: 27064559

Variant Present in the following documents:

• Main text
• fncel-10-00081.pdf

View BVdb publication page

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Quinidine in the treatment of KCNT1-positive epilepsies.

Annals Of Neurology

Mikati, Mohamad A MA; Jiang, Yong-Hui YH; Carboni, Michael M; Shashi, Vandana V; Petrovski, Slave S; Spillmann, Rebecca R; Milligan, Carol J CJ; Li, Melody M; Grefe, Annette A; McConkie, Allyn A; Berkovic, Samuel S; Scheffer, Ingrid I; Mullen, Saul S; Bonner, Melanie M; Petrou, Steven S; Goldstein, David D

Publication Date: 2015-12

Variant appearance in text: KCNT1: 1887G>C; Lys629Asn

PubMed Link: 26369628

Variant Present in the following documents:

• Main text

View BVdb publication page

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