Publications:

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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: KCNA2: 894G>T; Leu298Phe

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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KCNA1 gain-of-function epileptic encephalopathy treated with 4-aminopyridine.

Annals Of Clinical And Translational Neurology

Müller, Peter P; Takacs, Danielle S DS; Hedrich, Ulrike B S UBS; Coorg, Rohini R; Masters, Laura L; Glinton, Kevin E KE; Dai, Hongzheng H; Cokley, Jon A JA; Riviello, James J JJ; Lerche, Holger H; Cooper, Edward C EC

Publication Date: 2023-02-15

Variant appearance in text: KCNA2: L298F

PubMed Link: 36793218

Variant Present in the following documents:

• Main text
• ACN3-10-656.pdf

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Do All Roads Lead to Rome? Genes Causing Dravet Syndrome and Dravet Syndrome-Like Phenotypes.

Frontiers In Neurology

Ding, Jiangwei J; Wang, Lei L; Jin, Zhe Z; Qiang, Yuanyuan Y; Li, Wenchao W; Wang, Yangyang Y; Zhu, Changliang C; Jiang, Shucai S; Xiao, Lifei L; Hao, Xiaoyan X; Hu, Xulei X; Li, Xinxiao X; Wang, Feng F; Sun, Tao T

Publication Date: 2022

Variant appearance in text: KCNA2: L298F

PubMed Link: 35359639

Variant Present in the following documents:

• Main text
• fneur-13-832380.pdf

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A Novel KCNA2 Variant in a Patient with Non-Progressive Congenital Ataxia and Epilepsy: Functional Characterization and Sensitivity to 4-Aminopyridine.

International Journal Of Molecular Sciences

Imbrici, Paola P; Conte, Elena E; Blunck, Rikard R; Stregapede, Fabrizia F; Liantonio, Antonella A; Tosi, Michele M; D'Adamo, Maria Cristina MC; De Luca, Annamaria A; Brankovic, Vesna V; Zanni, Ginevra G

Publication Date: 2021-09-14

Variant appearance in text: Kv1.2: L298F

PubMed Link: 34576077

Variant Present in the following documents:

• Main text
• ijms-22-09913.pdf

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Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies.

Journal Of Neurology, Neurosurgery, And Psychiatry

Balestrini, Simona S; Chiarello, Daniela D; Gogou, Maria M; Silvennoinen, Katri K; Puvirajasinghe, Clinda C; Jones, Wendy D WD; Reif, Philipp P; Klein, Karl Martin KM; Rosenow, Felix F; Weber, Yvonne G YG; Lerche, Holger H; Schubert-Bast, Susanne S; Borggraefe, Ingo I; Coppola, Antonietta A; Troisi, Serena S; Møller, Rikke S RS; Riva, Antonella A; Striano, Pasquale P; Zara, Federico F; Hemingway, Cheryl C; Marini, Carla C; Rosati, Anna A; Mei, Davide D; Montomoli, Martino M; Guerrini, Renzo R; Cross, J Helen JH; Sisodiya, Sanjay M SM

Publication Date: 2021-10

Variant appearance in text: KCNA2: 894G>T; Leu298Phe

PubMed Link: 33903184

Variant Present in the following documents:

• Main text

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Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders.

International Journal Of Molecular Sciences

Döring, Jan H JH; Schröter, Julian J; Jüngling, Jerome J; Biskup, Saskia S; Klotz, Kerstin A KA; Bast, Thomas T; Dietel, Tobias T; Korenke, G Christoph GC; Christoph, Sophie S; Brennenstuhl, Heiko H; Rubboli, Guido G; Møller, Rikke S RS; Lesca, Gaetan G; Chaix, Yves Y; Kölker, Stefan S; Hoffmann, Georg F GF; Lemke, Johannes R JR; Syrbe, Steffen S

Publication Date: 2021-03-10

Variant appearance in text: KCNA2: 894G>T

PubMed Link: 33802230

Variant Present in the following documents:

• Main text
• ijms-22-02824.pdf

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Precision medicine and therapies of the future.

Epilepsia

Sisodiya, Sanjay M SM

Publication Date: 2021-03

Variant appearance in text: KCNA2: 894G>T; Leu298Phe

PubMed Link: 32776321

Variant Present in the following documents:

• Main text
• EPI-62-S90.pdf

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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: KCNA2: L298F

PubMed Link: 32655623

Variant Present in the following documents:

• Main text
• fgene-11-00614.pdf

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Slc7a5 alters Kvβ-mediated regulation of Kv1.2.

The Journal Of General Physiology

Lamothe, Shawn M SM; Kurata, Harley T HT

Publication Date: 2020-07-06

Variant appearance in text: Kv1.2: L298F

PubMed Link: 32311044

Variant Present in the following documents:

• Main text
• JGP_201912524.pdf

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Slc7a5 regulates Kv1.2 channels and modifies functional outcomes of epilepsy-linked channel mutations.

Nature Communications

Baronas, Victoria A VA; Yang, Runying Y RY; Morales, Luis Carlos LC; Sipione, Simonetta S; Kurata, Harley T HT

Publication Date: 2018-10-24

Variant appearance in text: Kv1.2: L298F

PubMed Link: 30356053

Variant Present in the following documents:

• Main text
• 41467_2018_Article_6859.pdf
• 41467_2018_6859_MOESM1_ESM.pdf

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Evaluating the pathogenic potential of genes with de novo variants in epileptic encephalopathies.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

He, Na N; Lin, Zhi-Jian ZJ; Wang, Jie J; Wei, Feng F; Meng, Heng H; Liu, Xiao-Rong XR; Chen, Qian Q; Su, Tao T; Shi, Yi-Wu YW; Yi, Yong-Hong YH; Liao, Wei-Ping WP

Publication Date: 2019-01

Variant appearance in text: Kv1.2: L298F

PubMed Link: 29895856

Variant Present in the following documents:

• Main text
• 41436_2018_Article_11.pdf

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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: Kv1.2: L298F

PubMed Link: 29542386

Variant Present in the following documents:

• Main text

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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: KCNA2: L298F

PubMed Link: 28488083

Variant Present in the following documents:

• Main text

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A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia.

Annals Of Neurology

Helbig, Katherine L KL; Hedrich, Ulrike B S UB; Shinde, Deepali N DN; Krey, Ilona I; Teichmann, Anne-Christin AC; Hentschel, Julia J; Schubert, Julian J; Chamberlin, Adam C AC; Huether, Robert R; Lu, Hsiao-Mei HM; Alcaraz, Wendy A WA; Tang, Sha S; Jungbluth, Chelsy C; Dugan, Sarah L SL; Vainionpää, Leena L; Karle, Kathrin N KN; Synofzik, Matthis M; Schöls, Ludger L; Schüle, Rebecca R; Lehesjoki, Anna-Elina AE; Helbig, Ingo I; Lerche, Holger H; Lemke, Johannes R JR

Publication Date: 2016-10

Variant appearance in text: KCNA2: L298F

PubMed Link: 27543892

Variant Present in the following documents:

• Main text
• ANA-80-0.pdf

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: KCNA2: L298F

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

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In silico prioritization based on coexpression can aid epileptic encephalopathy gene discovery.

Neurology. Genetics

Oliver, Karen L KL; Lukic, Vesna V; Freytag, Saskia S; Scheffer, Ingrid E IE; Berkovic, Samuel F SF; Bahlo, Melanie M

Publication Date: 2016-02

Variant appearance in text: KCNA2: 894G>T; Leu298Phe

PubMed Link: 27066588

Variant Present in the following documents:

• supp_2.1.e51_table_e-2.xlsx, sheet 1

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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: Kv1.2: Leu298Phe

PubMed Link: 27064559

Variant Present in the following documents:

• Main text
• fncel-10-00081.pdf

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Molecular pathophysiology and pharmacology of the voltage-sensing module of neuronal ion channels.

Frontiers In Cellular Neuroscience

Miceli, Francesco F; Soldovieri, Maria Virginia MV; Ambrosino, Paolo P; De Maria, Michela M; Manocchio, Laura L; Medoro, Alessandro A; Taglialatela, Maurizio M

Publication Date: 2015

Variant appearance in text: KCNA2: L298F

PubMed Link: 26236192

Variant Present in the following documents:

• Main text
• fncel-09-00259.pdf

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De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.

Nature Genetics

Syrbe, Steffen S; Hedrich, Ulrike B S UBS; Riesch, Erik E; Djémié, Tania T; Müller, Stephan S; Møller, Rikke S RS; Maher, Bridget B; Hernandez-Hernandez, Laura L; Synofzik, Matthis M; Caglayan, Hande S HS; Arslan, Mutluay M; Serratosa, José M JM; Nothnagel, Michael M; May, Patrick P; Krause, Roland R; Löffler, Heidrun H; Detert, Katja K; Dorn, Thomas T; Vogt, Heinrich H; Krämer, Günter G; Schöls, Ludger L; Mullis, Primus E PE; Linnankivi, Tarja T; Lehesjoki, Anna-Elina AE; Sterbova, Katalin K; Craiu, Dana C DC; Hoffman-Zacharska, Dorota D; Korff, Christian M CM; Weber, Yvonne G YG; Steinlin, Maja M; Gallati, Sabina S; Bertsche, Astrid A; Bernhard, Matthias K MK; Merkenschlager, Andreas A; Kiess, Wieland W; , ; Gonzalez, Michael M; Züchner, Stephan S; Palotie, Aarno A; Suls, Arvid A; De Jonghe, Peter P; Helbig, Ingo I; Biskup, Saskia S; Wolff, Markus M; Maljevic, Snezana S; Schüle, Rebecca R; Sisodiya, Sanjay M SM; Weckhuysen, Sarah S; Lerche, Holger H; Lemke, Johannes R JR

Publication Date: 2015-04

Variant appearance in text: KCNA2: 894G>T

PubMed Link: 25751627

Variant Present in the following documents:

• Main text
• emss-62156.pdf
• NIHMS62156-supplement-4.xlsx, sheet 2

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