Publications:

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Novel Genetic Variants Expand the Functional, Molecular, and Pathological Diversity of KCNA1 Channelopathy.

International Journal Of Molecular Sciences

Paulhus, Kelsey K; Glasscock, Edward E

Publication Date: 2023-05-16

Variant appearance in text: KCNA1: A242P

PubMed Link: 37240170

Variant Present in the following documents:

• Main text
• ijms-24-08826.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: KCNA1: 724G>C; Ala242Pro

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Are transient protein-protein interactions more dispensable?

Plos Computational Biology

Ghadie, Mohamed Ali MA; Xia, Yu Y

Publication Date: 2022-04

Variant appearance in text: KCNA1: 724G>C; Ala242Pro

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 4
• pcbi.1010013.s002.xlsx, sheet 2

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A Novel KCNA1 Variant Manifesting as Persistent Limb Myokymia Without Episodic Ataxia.

Journal Of Clinical Neurology (Seoul, Korea)

Shin, In Ja IJ; Sohn, Sung-Yeon SY; Kim, Shin Yeop SY; Joo, In Soo IS

Publication Date: 2022-03

Variant appearance in text: KCNA1: Ala242Pro

PubMed Link: 35274848

Variant Present in the following documents:

• jcn-18-235.pdf

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Therapeutic Potential of Sodium Channel Blockers as a Targeted Therapy Approach in KCNA1-Associated Episodic Ataxia and a Comprehensive Review of the Literature.

Frontiers In Neurology

Lauxmann, Stephan S; Sonnenberg, Lukas L; Koch, Nils A NA; Bosselmann, Christian C; Winter, Natalie N; Schwarz, Niklas N; Wuttke, Thomas V TV; Hedrich, Ulrike B S UBS; Liu, Yuanyuan Y; Lerche, Holger H; Benda, Jan J; Kegele, Josua J

Publication Date: 2021

Variant appearance in text: KCNA1: A242P

PubMed Link: 34566847

Variant Present in the following documents:

• Main text
• fneur-12-703970.pdf

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Involvement of the Peripheral Nervous System in Episodic Ataxias.

Biomedicines

Koźmiński, Wojciech W; Pera, Joanna J

Publication Date: 2020-10-22

Variant appearance in text: KCNA1: A242P

PubMed Link: 33105744

Variant Present in the following documents:

• Main text
• biomedicines-08-00448.pdf

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Two novel KCNA1 variants identified in two unrelated Chinese families affected by episodic ataxia type 1 and neurodevelopmental disorders.

Molecular Genetics & Genomic Medicine

Yuan, Haiming H; Yuan, Huihua H; Wang, Qingming Q; Ye, Wanhua W; Yao, Ruixia R; Xu, Wanfang W; Liu, Yanhui Y

Publication Date: 2020-10

Variant appearance in text: KCNA1: Ala242Pro

PubMed Link: 32705822

Variant Present in the following documents:

• Main text
• MGG3-8-e1434.pdf

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Kv1.1 Channelopathies: Pathophysiological Mechanisms and Therapeutic Approaches.

International Journal Of Molecular Sciences

D'Adamo, Maria Cristina MC; Liantonio, Antonella A; Rolland, Jean-Francois JF; Pessia, Mauro M; Imbrici, Paola P

Publication Date: 2020-04-22

Variant appearance in text: KCNA1: A242P

PubMed Link: 32331416

Variant Present in the following documents:

• Main text

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Clinical Spectrum of KCNA1 Mutations: New Insights into Episodic Ataxia and Epilepsy Comorbidity.

International Journal Of Molecular Sciences

Paulhus, Kelsey K; Ammerman, Lauren L; Glasscock, Edward E

Publication Date: 2020-04-17

Variant appearance in text: KCNA1: A242P

PubMed Link: 32316562

Variant Present in the following documents:

• Main text
• ijms-21-02802.pdf

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Estimating dispensable content in the human interactome.

Nature Communications

Ghadie, Mohamed M; Xia, Yu Y

Publication Date: 2019-07-19

Variant appearance in text: KCNA1: 724G>C; Ala242Pro

PubMed Link: 31324802

Variant Present in the following documents:

• 41467_2019_11180_MOESM8_ESM.xlsx, sheet 4
• 41467_2019_11180_MOESM6_ESM.xlsx, sheet 4

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Scn2a deletion improves survival and brain-heart dynamics in the Kcna1-null mouse model of sudden unexpected death in epilepsy (SUDEP).

Human Molecular Genetics

Mishra, Vikas V; Karumuri, Bharat K BK; Gautier, Nicole M NM; Liu, Rui R; Hutson, Timothy N TN; Vanhoof-Villalba, Stephanie L SL; Vlachos, Ioannis I; Iasemidis, Leonidas L; Glasscock, Edward E

Publication Date: 2017-06-01

Variant appearance in text: KCNA1: A242P

PubMed Link: 28334922

Variant Present in the following documents:

• Main text

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs28933381

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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New insights into the pathogenesis and therapeutics of episodic ataxia type 1.

Frontiers In Cellular Neuroscience

D'Adamo, Maria Cristina MC; Hasan, Sonia S; Guglielmi, Luca L; Servettini, Ilenio I; Cenciarini, Marta M; Catacuzzeno, Luigi L; Franciolini, Fabio F

Publication Date: 2015

Variant appearance in text: Kv1.1: A242P

PubMed Link: 26347608

Variant Present in the following documents:

• Main text

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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: KCNA1: A242P

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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Episodic ataxia type 1: clinical characterization, quality of life and genotype-phenotype correlation.

Brain : A Journal Of Neurology

Graves, Tracey D TD; Cha, Yoon-Hee YH; Hahn, Angelika F AF; Barohn, Richard R; Salajegheh, Mohammed K MK; Griggs, Robert C RC; Bundy, Brian N BN; Jen, Joanna C JC; Baloh, Robert W RW; Hanna, Michael G MG; ,

Publication Date: 2014-04

Variant appearance in text: KCNA1: A242P

PubMed Link: 24578548

Variant Present in the following documents:

• Main text

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Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1.

Journal Of Neurology, Neurosurgery, And Psychiatry

Tomlinson, Susan Elizabeth SE; Rajakulendran, Sanjeev S; Tan, Stella Veronica SV; Graves, Tracey Dawn TD; Bamiou, Doris-Eva DE; Labrum, Robyn W RW; Burke, David D; Sue, Carolyn M CM; Giunti, Paola P; Schorge, Stephanie S; Kullmann, Dimitri M DM; Hanna, Michael G MG

Publication Date: 2013-10

Variant appearance in text: KCNA1: A242P

PubMed Link: 23349320

Variant Present in the following documents:

• Main text
• jnnp-2012-304131-s1.pdf
• jnnp-2012-304131.pdf

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Nerve excitability studies characterize Kv1.1 fast potassium channel dysfunction in patients with episodic ataxia type 1.

Brain : A Journal Of Neurology

Tomlinson, Susan E SE; Tan, S Veronica SV; Kullmann, Dimitri M DM; Griggs, Robert C RC; Burke, David D; Hanna, Michael G MG; Bostock, Hugh H

Publication Date: 2010-12

Variant appearance in text: KCNA1: A242P

PubMed Link: 21106501

Variant Present in the following documents:

• Main text

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Variable K(+) channel subunit dysfunction in inherited mutations of KCNA1.

The Journal Of Physiology

Rea, Ruth R; Spauschus, Alexander A; Eunson, Louise H LH; Hanna, Michael G MG; Kullmann, Dimitri M DM

Publication Date: 2002-01-01

Variant appearance in text: Kv1.1: A242P

PubMed Link: 11773313

Variant Present in the following documents:

• Main text

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