KCNMA1 c.1301A>G ;(p.D434G)

Variant ID: 10-78850191-T-C

NM_001161352.1(KCNMA1):c.1301A>G;(p.D434G)

This variant was identified in 36 publications

View GRCh38 version.




Publications:


Genetic Links to Episodic Movement Disorders: Current Insights.

The Application Of Clinical Genetics
Garg, Divyani D; Mohammad, Shekeeb S; Shukla, Anju A; Sharma, Suvasini S
Publication Date: 2023

Variant appearance in text: KCa1.1: Asp434Gly
PubMed Link: 36883047
Variant Present in the following documents:
  • Main text
  • tacg-16-11.pdf
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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: KCNMA1: 1301A>G; Asp434Gly
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



BK channel properties correlate with neurobehavioral severity in three KCNMA1-linked channelopathy mouse models.

Elife
Park, Su Mi SM; Roache, Cooper E CE; Iffland, Philip H PH; Moldenhauer, Hans J HJ; Matychak, Katia K KK; Plante, Amber E AE; Lieberman, Abby G AG; Crino, Peter B PB; Meredith, Andrea A
Publication Date: 2022-07-12

Variant appearance in text: KCNMA1: D434G; rs137853333
PubMed Link: 35819138
Variant Present in the following documents:
  • Main text
  • elife-77953.pdf
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Damaging novel mutations in PIGN cause developmental epileptic-dyskinetic encephalopathy: a case report.

Bmc Pediatrics
Tian, Maoqiang M; Chen, Jing J; Li, Juan J; Pan, Hong H; Lei, Wenting W; Shu, Xiaomei X
Publication Date: 2022-04-25

Variant appearance in text: KCNMA1: D434G
PubMed Link: 35468813
Variant Present in the following documents:
  • Main text
  • 12887_2022_Article_3246.pdf
View BVdb publication page



Molecular Mechanisms of Epileptic Encephalopathy Caused by KCNMA1 Loss-of-Function Mutations.

Frontiers In Pharmacology
Yao, Yu Y; Qu, Dongxiao D; Jing, Xiaoping X; Jia, Yuxiang Y; Zhong, Qi Q; Zhuo, Limin L; Chen, Xingxing X; Li, Guoyi G; Tang, Lele L; Zhu, Yudan Y; Zhang, Xuemei X; Ji, Yonghua Y; Li, Zhiping Z; Tao, Jie J
Publication Date: 2021

Variant appearance in text: KCNMA1: D434G
PubMed Link: 35095492
Variant Present in the following documents:
  • Main text
  • fphar-12-775328.pdf
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Editorial: Ion Channels: Therapeutic Targets for Neurological Disease.

Frontiers In Molecular Neuroscience
Hou, Panpan P; Du, Xiaona X; An, Hailong H
Publication Date: 2021

Variant appearance in text: KCNMA1: D434G
PubMed Link: 34867195
Variant Present in the following documents:
  • Main text
  • fnmol-14-797327.pdf
View BVdb publication page



BK Channel Gating Mechanisms: Progresses Toward a Better Understanding of Variants Linked Neurological Diseases.

Frontiers In Physiology
Cui, Jianmin J
Publication Date: 2021

Variant appearance in text: KCNMA1: D434G
PubMed Link: 34744799
Variant Present in the following documents:
  • Main text
  • fphys-12-762175.pdf
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Two novel presentations of KCNMA1-related pathology--Expanding the clinical phenotype of a rare channelopathy.

Molecular Genetics & Genomic Medicine
Rodrigues Bento, Jotte J; Feben, Candice C; Kempers, Marlies M; van Rij, Maartje M; Woiski, Mallory M; Devriendt, Koenraad K; De Catte, Luc L; Baldewijns, Marcella M; Alaerts, Maaike M; Meester, Josephina J; Verstraeten, Aline A; Hendson, Willy W; Loeys, Bart B
Publication Date: 2021-10

Variant appearance in text: KCNMA1: Asp434Gly
PubMed Link: 34499417
Variant Present in the following documents:
  • Main text
  • MGG3-9-e1797.pdf
View BVdb publication page



Two novel presentations of KCNMA1-related pathology--Expanding the clinical phenotype of a rare channelopathy.

Molecular Genetics & Genomic Medicine
Rodrigues Bento, Jotte J; Feben, Candice C; Kempers, Marlies M; van Rij, Maartje M; Woiski, Mallory M; Devriendt, Koenraad K; De Catte, Luc L; Baldewijns, Marcella M; Alaerts, Maaike M; Meester, Josephina J; Verstraeten, Aline A; Hendson, Willy W; Loeys, Bart B
Publication Date: 2021-10

Variant appearance in text: KCNMA1: Asp434Gly
PubMed Link: 34499417
Variant Present in the following documents:
  • Main text
  • MGG3-9-e1797.pdf
View BVdb publication page



An emerging spectrum of variants and clinical features in KCNMA1-linked channelopathy.

Channels (Austin, Tex.)
Miller, Jacob P JP; Moldenhauer, Hans J HJ; Keros, Sotirios S; Meredith, Andrea L AL
Publication Date: 2021-12

Variant appearance in text: KCNMA1: D434G; rs137853333
PubMed Link: 34224328
Variant Present in the following documents:
  • Main text
View BVdb publication page



Paroxysmal Movement Disorders.

Frontiers In Neurology
Harvey, Susan S; King, Mary D MD; Gorman, Kathleen M KM
Publication Date: 2021

Variant appearance in text: KCNMA1: Asp434Gly
PubMed Link: 34177764
Variant Present in the following documents:
  • Main text
  • fneur-12-659064.pdf
View BVdb publication page



Impaired Pre-Motor Circuit Activity and Movement in a Drosophila Model of KCNMA1-Linked Dyskinesia.

Movement Disorders : Official Journal Of The Movement Disorder Society
Kratschmer, Patrick P; Lowe, Simon A SA; Buhl, Edgar E; Chen, Ko-Fan KF; Kullmann, Dimitri M DM; Pittman, Alan A; Hodge, James J L JJL; Jepson, James E C JEC
Publication Date: 2021-05

Variant appearance in text: SLO: D434G
PubMed Link: 33449381
Variant Present in the following documents:
  • Main text
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: KCNMA1: 1301A>G; Asp434Gly
PubMed Link: 32832622
Variant Present in the following documents:
  • aba1773_Data_file_S1.xlsx, sheet 2
View BVdb publication page



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: KCNMA1: D434G
PubMed Link: 32655623
Variant Present in the following documents:
  • Main text
  • fgene-11-00614.pdf
View BVdb publication page



A Gain-of-Function Mutation in KCNMA1 Causes Dystonia Spells Controlled With Stimulant Therapy.

Movement Disorders : Official Journal Of The Movement Disorder Society
Zhang, Guohui G; Gibson, Rebecca A RA; McDonald, Marie M; Liang, Pengfei P; Kang, Po Wei PW; Shi, Jingyi J; Yang, Huanghe H; Cui, Jianmin J; Mikati, Mohamad A MA
Publication Date: 2020-10

Variant appearance in text: KCNMA1: D434G
PubMed Link: 32633875
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comparative gain-of-function effects of the KCNMA1-N999S mutation on human BK channel properties.

Journal Of Neurophysiology
Moldenhauer, Hans J HJ; Matychak, Katia K KK; Meredith, Andrea L AL
Publication Date: 2020-02-01

Variant appearance in text: KCNMA1: D434G; rs137853333
PubMed Link: 31851553
Variant Present in the following documents:
  • Main text
View BVdb publication page



Effects of Single Nucleotide Polymorphisms in Human KCNMA1 on BK Current Properties.

Frontiers In Molecular Neuroscience
Plante, Amber E AE; Lai, Michael H MH; Lu, Jessica J; Meredith, Andrea L AL
Publication Date: 2019

Variant appearance in text: KCNMA1: D434G; rs137853333
PubMed Link: 31849601
Variant Present in the following documents:
  • Main text
  • fnmol-12-00285.pdf
View BVdb publication page



KCNMA1-linked channelopathy.

The Journal Of General Physiology
Bailey, Cole S CS; Moldenhauer, Hans J HJ; Park, Su Mi SM; Keros, Sotirios S; Meredith, Andrea L AL
Publication Date: 2019-10-07

Variant appearance in text: KCNMA1: D434G; rs137853333
PubMed Link: 31427379
Variant Present in the following documents:
  • JGP_201912457_sm.pdf
View BVdb publication page



Physiological Roles and Therapeutic Potential of Ca2+ Activated Potassium Channels in the Nervous System.

Frontiers In Molecular Neuroscience
Kshatri, Aravind S AS; Gonzalez-Hernandez, Alberto A; Giraldez, Teresa T
Publication Date: 2018

Variant appearance in text: KCNMA1: D434G
PubMed Link: 30104956
Variant Present in the following documents:
  • Main text
  • fnmol-11-00258.pdf
View BVdb publication page



Insights into the pathogenesis of dominant retinitis pigmentosa associated with a D477G mutation in RPE65.

Human Molecular Genetics
Choi, Elliot H EH; Suh, Susie S; Sander, Christopher L CL; Hernandez, Christian J Ortiz CJO; Bulman, Elizabeth R ER; Khadka, Nimesh N; Dong, Zhiqian Z; Shi, Wuxian W; Palczewski, Krzysztof K; Kiser, Philip D PD
Publication Date: 2018-07-01

Variant appearance in text: SLO: D434G
PubMed Link: 29659842
Variant Present in the following documents:
  • Main text
View BVdb publication page



Expanding the Phenotype of Homozygous KCNMA1 Mutations; Dyskinesia, Epilepsy, Intellectual Disability, Cerebellar and Corticospinal Tract Atrophy

Balkan Medical Journal
Yeşil, Gözde G; Aralaşmak, Ayşe A; Akyüz, Enes E; İçağasıoğlu, Dilara D; Uygur Şahin, Türkan T; Bayram, Yavuz Y
Publication Date: 2018-07-24

Variant appearance in text: KCNMA1: D434G
PubMed Link: 29545233
Variant Present in the following documents:
  • Main text
  • BMJ-35-336.pdf
View BVdb publication page



Potassium Channel Gain of Function in Epilepsy: An Unresolved Paradox.

The Neuroscientist : A Review Journal Bringing Neurobiology, Neurology And Psychiatry
Niday, Zachary Z; Tzingounis, Anastasios V AV
Publication Date: 2018-08

Variant appearance in text: KCNMA1: D434G
PubMed Link: 29542386
Variant Present in the following documents:
  • Main text
View BVdb publication page



De novo BK channel variant causes epilepsy by affecting voltage gating but not Ca2+ sensitivity.

European Journal Of Human Genetics : Ejhg
Li, Xia X; Poschmann, Sibylle S; Chen, Qiuyun Q; Fazeli, Walid W; Oundjian, Nelly Jouayed NJ; Snoeijen-Schouwenaars, Francesca M FM; Fricke, Oliver O; Kamsteeg, Erik-Jan EJ; Willemsen, Marjolein M; Wang, Qing Kenneth QK
Publication Date: 2018-02

Variant appearance in text: KCNMA1: 1301A>G; D434G
PubMed Link: 29330545
Variant Present in the following documents:
  • Main text
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: KCNMA1: D434G
PubMed Link: 28488083
Variant Present in the following documents:
  • Main text
View BVdb publication page



BK Channels in the Central Nervous System.

International Review Of Neurobiology
Contet, C C; Goulding, S P SP; Kuljis, D A DA; Barth, A L AL
Publication Date: 2016

Variant appearance in text: KCNMA1: D434G
PubMed Link: 27238267
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: KCNMA1: Asp434Gly
PubMed Link: 27064559
Variant Present in the following documents:
  • Main text
  • fncel-10-00081.pdf
View BVdb publication page



Presynaptic BK channels control transmitter release: physiological relevance and potential therapeutic implications.

The Journal Of Physiology
Griguoli, Marilena M; Sgritta, Martina M; Cherubini, Enrico E
Publication Date: 2016-07-01

Variant appearance in text: KCNMA1: D434G
PubMed Link: 26969302
Variant Present in the following documents:
  • Main text
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: KCNMA1: D434G
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



Update on the implication of potassium channels in autism: K(+) channelautism spectrum disorder.

Frontiers In Cellular Neuroscience
Guglielmi, Luca L; Servettini, Ilenio I; Caramia, Martino M; Catacuzzeno, Luigi L; Franciolini, Fabio F; D'Adamo, Maria Cristina MC; Pessia, Mauro M
Publication Date: 2015

Variant appearance in text: KCNMA1: D434G
PubMed Link: 25784856
Variant Present in the following documents:
  • Main text
  • fncel-09-00034.pdf
View BVdb publication page



BK channel activators and their therapeutic perspectives.

Frontiers In Physiology
Bentzen, Bo H BH; Olesen, Søren-Peter SP; Rønn, Lars C B LC; Grunnet, Morten M
Publication Date: 2014

Variant appearance in text: KCNMA1: D434G
PubMed Link: 25346695
Variant Present in the following documents:
  • Main text
View BVdb publication page



Current understanding of iberiotoxin-resistant BK channels in the nervous system.

Frontiers In Physiology
Wang, Bin B; Jaffe, David B DB; Brenner, Robert R
Publication Date: 2014

Variant appearance in text: KCNMA1: D434G
PubMed Link: 25346692
Variant Present in the following documents:
  • fphys-05-00382.pdf
View BVdb publication page



BKCa channel dysfunction in neurological diseases.

Frontiers In Physiology
N'Gouemo, Prosper P
Publication Date: 2014

Variant appearance in text: KCNMA1: D434G
PubMed Link: 25324781
Variant Present in the following documents:
  • Main text
View BVdb publication page



K(+) channelepsy: progress in the neurobiology of potassium channels and epilepsy.

Frontiers In Cellular Neuroscience
D'Adamo, Maria Cristina MC; Catacuzzeno, Luigi L; Di Giovanni, Giuseppe G; Franciolini, Fabio F; Pessia, Mauro M
Publication Date: 2013-09-13

Variant appearance in text: KCNMA1: D434G
PubMed Link: 24062639
Variant Present in the following documents:
  • Main text
View BVdb publication page



A BK (Slo1) channel journey from molecule to physiology.

Channels (Austin, Tex.)
Contreras, Gustavo F GF; Castillo, Karen K; Enrique, Nicolás N; Carrasquel-Ursulaez, Willy W; Castillo, Juan Pablo JP; Milesi, Verónica V; Neely, Alan A; Alvarez, Osvaldo O; Ferreira, Gonzalo G; González, Carlos C; Latorre, Ramón R
Publication Date: 2013

Variant appearance in text: SLO: D434G
PubMed Link: 24025517
Variant Present in the following documents:
  • Main text
View BVdb publication page



The large conductance, calcium-activated K+ (BK) channel is regulated by cysteine string protein.

Scientific Reports
Kyle, Barry D BD; Ahrendt, Eva E; Braun, Andrew P AP; Braun, Janice E A JE
Publication Date: 2013

Variant appearance in text: KCNMA1: D434G
PubMed Link: 23945775
Variant Present in the following documents:
  • Main text
  • srep02447.pdf
View BVdb publication page



Targeting BK (big potassium) channels in epilepsy.

Expert Opinion On Therapeutic Targets
N'Gouemo, Prosper P
Publication Date: 2011-11

Variant appearance in text: KCNMA1: D434G
PubMed Link: 21923633
Variant Present in the following documents:
  • Main text
View BVdb publication page