Publications:

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Investigating the genetic contribution in febrile infection-related epilepsy syndrome and refractory status epilepticus.

Frontiers In Neurology

deCampo, Danielle D; Xian, Julie J; Karlin, Alexis A; Sullivan, Katie R KR; Ruggiero, Sarah M SM; Galer, Peter P; Ramos, Mark M; Abend, Nicholas S NS; Gonzalez, Alex A; Helbig, Ingo I

Publication Date: 2023

Variant appearance in text: KCNA2: Pro405Leu

PubMed Link: 37077567

Variant Present in the following documents:

• Data_Sheet_1.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: KCNA2: 1214C>T; Pro405Leu

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Human In Vitro Models of Epilepsy Using Embryonic and Induced Pluripotent Stem Cells.

Cells

Javaid, Muhammad Shahid MS; Tan, Tracie T; Dvir, Naomi N; Anderson, Alison A; J O'Brien, Terence T; Kwan, Patrick P; Antonic-Baker, Ana A

Publication Date: 2022-12-07

Variant appearance in text: KCNA2: P405L

PubMed Link: 36552721

Variant Present in the following documents:

• cells-11-03957.pdf

View BVdb publication page

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Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE

Publication Date: 2022-11-15

Variant appearance in text: KCNA2: 1214C>T; Pro405Leu

PubMed Link: 36350923

Variant Present in the following documents:

• pnas.2203491119.sd01.xlsx, sheet 1

View BVdb publication page

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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: KCNA2: 1214C>T; P405L

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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Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.

Genome Medicine

Hamanaka, Kohei K; Miyake, Noriko N; Mizuguchi, Takeshi T; Miyatake, Satoko S; Uchiyama, Yuri Y; Tsuchida, Naomi N; Sekiguchi, Futoshi F; Mitsuhashi, Satomi S; Tsurusaki, Yoshinori Y; Nakashima, Mitsuko M; Saitsu, Hirotomo H; Yamada, Kohei K; Sakamoto, Masamune M; Fukuda, Hiromi H; Ohori, Sachiko S; Saida, Ken K; Itai, Toshiyuki T; Azuma, Yoshiteru Y; Koshimizu, Eriko E; Fujita, Atsushi A; Erturk, Biray B; Hiraki, Yoko Y; Ch'ng, Gaik-Siew GS; Kato, Mitsuhiro M; Okamoto, Nobuhiko N; Takata, Atsushi A; Matsumoto, Naomichi N

Publication Date: 2022-04-26

Variant appearance in text: KCNA2: 1214C>T; Pro405Leu

PubMed Link: 35468861

Variant Present in the following documents:

• 13073_2022_1042_MOESM2_ESM.xls, sheet 8

View BVdb publication page

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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: P405L

PubMed Link: 35359639

Variant Present in the following documents:

• Main text
• fneur-13-832380.pdf

View BVdb publication page

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Exploring K 1.2 Channel Inactivation Through MD Simulations and Network Analysis.

Frontiers In Molecular Biosciences

Costa, Flavio F; Guardiani, Carlo C; Giacomello, Alberto A

Publication Date: 2021

Variant appearance in text: Kv1.2: P405L

PubMed Link: 34988118

Variant Present in the following documents:

• Main text
• fmolb-08-784276.pdf

View BVdb publication page

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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: KCNA2: P405L

PubMed Link: 34576077

Variant Present in the following documents:

• Main text
• ijms-22-09913.pdf

View BVdb publication page

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Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis.

Plos One

Gall, Kimberly K; Izzo, Emanuela E; Seppälä, Eija H EH; Alakurtti, Kirsi K; Koskinen, Lotta L; Saarinen, Inka I; Singh, Akashdeep A; Myllykangas, Samuel S; Koskenvuo, Juha J; Alastalo, Tero-Pekka TP

Publication Date: 2021

Variant appearance in text: KCNA2: 1214C>T; Pro405Leu

PubMed Link: 34469436

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic Etiologies in Developmental and/or Epileptic Encephalopathy With Electrical Status Epilepticus During Sleep: Cohort Study.

Frontiers In Genetics

Gong, Pan P; Xue, Jiao J; Jiao, Xianru X; Zhang, Yuehua Y; Yang, Zhixian Z

Publication Date: 2021

Variant appearance in text: KCNA2: 1214C>T; Pro405Leu

PubMed Link: 33897753

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 1214C>T

PubMed Link: 33802230

Variant Present in the following documents:

• Main text
• ijms-22-02824.pdf

View BVdb publication page

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Complex Mosaicism of Two Distinct Mutations in a Female Patient With KCNA2-Related Encephalopathy: A Case Report.

Frontiers In Genetics

Gong, Pan P; Jiao, Xianru X; Zhang, Yuehua Y; Yang, Zhixian Z

Publication Date: 2020

Variant appearance in text: KCNA2: 1214C>T; Pro405Leu

PubMed Link: 32903602

Variant Present in the following documents:

• Main text
• fgene-11-00911.pdf

View BVdb publication page

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Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.

Epilepsia Open

Truty, Rebecca R; Patil, Nila N; Sankar, Raman R; Sullivan, Joseph J; Millichap, John J; Carvill, Gemma G; Entezam, Ali A; Esplin, Edward D ED; Fuller, Amy A; Hogue, Michelle M; Johnson, Britt B; Khouzam, Amirah A; Kobayashi, Yuya Y; Lewis, Rachel R; Nykamp, Keith K; Riethmaier, Darlene D; Westbrook, Jody J; Zeman, Michelle M; Nussbaum, Robert L RL; Aradhya, Swaroop S

Publication Date: 2019-09

Variant appearance in text: KCNA2: 1214C>T; Pro405Leu

PubMed Link: 31440721

Variant Present in the following documents:

• EPI4-4-397-s003.xlsx, sheet 1

View BVdb publication page

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Genetic etiologies of the electrical status epilepticus during slow wave sleep: systematic review.

Bmc Genetics

Kessi, Miriam M; Peng, Jing J; Yang, Lifen L; Xiong, Juan J; Duan, Haolin H; Pang, Nan N; Yin, Fei F

Publication Date: 2018-07-06

Variant appearance in text: KCNA2: Pro405Leu

PubMed Link: 29976148

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: KCNA2: P405L

PubMed Link: 29895856

Variant Present in the following documents:

• Main text
• 41436_2018_Article_11.pdf

View BVdb publication page

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Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget

Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K

Publication Date: 2017-11-21

Variant appearance in text: KCNA2: 1214C>T; P405L

PubMed Link: 29245897

Variant Present in the following documents:

• oncotarget-08-99237-s002.xlsx, sheet 1

View BVdb publication page

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The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

Human Genetics

Monies, Dorota D; Abouelhoda, Mohamed M; AlSayed, Moeenaldeen M; Alhassnan, Zuhair Z; Alotaibi, Maha M; Kayyali, Husam H; Al-Owain, Mohammed M; Shah, Ayaz A; Rahbeeni, Zuhair Z; Al-Muhaizea, Mohammad A MA; Alzaidan, Hamad I HI; Cupler, Edward E; Bohlega, Saeed S; Faqeih, Eissa E; Faden, Maha M; Alyounes, Banan B; Jaroudi, Dyala D; Goljan, Ewa E; Elbardisy, Hadeel H; Akilan, Asma A; Albar, Renad R; Aldhalaan, Hesham H; Gulab, Shamshad S; Chedrawi, Aziza A; Al Saud, Bandar K BK; Kurdi, Wesam W; Makhseed, Nawal N; Alqasim, Tahani T; El Khashab, Heba Y HY; Al-Mousa, Hamoud H; Alhashem, Amal A; Kanaan, Imaduddin I; Algoufi, Talal T; Alsaleem, Khalid K; Basha, Talal A TA; Al-Murshedi, Fathiya F; Khan, Sameena S; Al-Kindy, Adila A; Alnemer, Maha M; Al-Hajjar, Sami S; Alyamani, Suad S; Aldhekri, Hasan H; Al-Mehaidib, Ali A; Arnaout, Rand R; Dabbagh, Omar O; Shagrani, Mohammad M; Broering, Dieter D; Tulbah, Maha M; Alqassmi, Amal A; Almugbel, Maisoon M; AlQuaiz, Mohammed M; Alsaman, Abdulaziz A; Al-Thihli, Khalid K; Sulaiman, Raashda A RA; Al-Dekhail, Wajeeh W; Alsaegh, Abeer A; Bashiri, Fahad A FA; Qari, Alya A; Alhomadi, Suzan S; Alkuraya, Hisham H; Alsebayel, Mohammed M; Hamad, Muddathir H MH; Szonyi, Laszlo L; Abaalkhail, Faisal F; Al-Mayouf, Sulaiman M SM; Almojalli, Hamad H; Alqadi, Khalid S KS; Elsiesy, Hussien H; Shuaib, Taghreed M TM; Seidahmed, Mohammed Zain MZ; Abosoudah, Ibraheem I; Akleh, Hana H; AlGhonaium, Abdulaziz A; Alkharfy, Turki M TM; Al Mutairi, Fuad F; Eyaid, Wafa W; Alshanbary, Abdullah A; Sheikh, Farrukh R FR; Alsohaibani, Fahad I FI; Alsonbul, Abdullah A; Al Tala, Saeed S; Balkhy, Soher S; Bassiouni, Randa R; Alenizi, Ahmed S AS; Hussein, Maged H MH; Hassan, Saeed S; Khalil, Mohamed M; Tabarki, Brahim B; Alshahwan, Saad S; Oshi, Amira A; Sabr, Yasser Y; Alsaadoun, Saad S; Salih, Mustafa A MA; Mohamed, Sarar S; Sultana, Habiba H; Tamim, Abdullah A; El-Haj, Moayad M; Alshahrani, Saif S; Bubshait, Dalal K DK; Alfadhel, Majid M; Faquih, Tariq T; El-Kalioby, Mohamed M; Subhani, Shazia S; Shah, Zeeshan Z; Moghrabi, Nabil N; Meyer, Brian F BF; Alkuraya, Fowzan S FS

Publication Date: 2017-08

Variant appearance in text: KCNA2: 1214C>T; P405L

PubMed Link: 28600779

Variant Present in the following documents:

• 439_2017_1821_MOESM1_ESM.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: KCNA2: P405L

PubMed Link: 28488083

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pore size matters for potassium channel conductance.

The Journal Of General Physiology

Naranjo, David D; Moldenhauer, Hans H; Pincuntureo, Matías M; Díaz-Franulic, Ignacio I

Publication Date: 2016-10

Variant appearance in text: KCNA2: P405L

PubMed Link: 27619418

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: P405L

PubMed Link: 27543892

Variant Present in the following documents:

• Main text
• ANA-80-0.pdf

View BVdb publication page

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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: P405L

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

View BVdb publication page

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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: 1214C>T; Pro405Leu

PubMed Link: 27066588

Variant Present in the following documents:

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

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: Kv1.2: Pro405Leu

PubMed Link: 27064559

Variant Present in the following documents:

• Main text
• fncel-10-00081.pdf

View BVdb publication page

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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: P405L

PubMed Link: 26236192

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 1214C>T

PubMed Link: 25751627

Variant Present in the following documents:

• Main text
• emss-62156.pdf
• NIHMS62156-supplement-4.xlsx, sheet 2
• NIHMS62156-supplement-3.xls, sheet 2
• NIHMS62156-supplement-3.xls, sheet 1

View BVdb publication page

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