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: KCNC1: 959G>A; Arg320His
Apo and ligand-bound high resolution Cryo-EM structures of the human Kv3.1 channel reveal a novel binding site for positive modulators.
Pnas Nexus
Botte, Mathieu M; Huber, Sophie S; Bucher, Denis D; Klint, Julie K JK; Rodríguez, David D; Tagmose, Lena L; Chami, Mohamed M; Cheng, Robert R; Hennig, Michael M; Abdul Rahman, Wassim W
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
Jama Neurology
McKnight, Dianalee D; Morales, Ana A; Hatchell, Kathryn E KE; Bristow, Sara L SL; Bonkowsky, Joshua L JL; Perry, Michael Scott MS; Berg, Anne T AT; Borlot, Felippe F; Esplin, Edward D ED; Moretz, Chad C; Angione, Katie K; Ríos-Pohl, Loreto L; Nussbaum, Robert L RL; Aradhya, Swaroop S; , ; Haldeman-Englert, Chad R CR; Levy, Rebecca J RJ; Parachuri, Venu G VG; Lay-Son, Guillermo G; de Montellano, David J Dávila-Ortiz DJD; Ramirez-Garcia, Miguel Angel MA; Benítez Alonso, Edmar O EO; Ziobro, Julie J; Chirita-Emandi, Adela A; Felix, Temis M TM; Kulasa-Luke, Dianne D; Megarbane, Andre A; Karkare, Shefali S; Chagnon, Sarah L SL; Humberson, Jennifer B JB; Assaf, Melissa J MJ; Silva, Sebastian S; Zarroli, Katherine K; Boyarchuk, Oksana O; Nelson, Gary R GR; Palmquist, Rachel R; Hammond, Katherine C KC; Hwang, Sean T ST; Boutlier, Susan B SB; Nolan, Melinda M; Batley, Kaitlin Y KY; Chavda, Devraj D; Reyes-Silva, Carlos Alberto CA; Miroshnikov, Oleksandr O; Zuccarelli, Britton B; Amlie-Wolf, Louise L; Wheless, James W JW; Seinfeld, Syndi S; Kanhangad, Manoj M; Freeman, Jeremy L JL; Monroy-Santoyo, Susana S; Rodriguez-Vazquez, Natalia N; Ryan, Monique M MM; Machie, Michelle M; Guerra, Patricio P; Hassan, Muhammad Jawad MJ; Candee, Meghan S MS; Bupp, Caleb P CP; Park, Kristen L KL; Muller, Eric E; Lupo, Pamela P; Pedersen, Robert C RC; Arain, Amir M AM; Murphy, Andrea A; Schatz, Krista K; Mu, Weiyi W; Kalika, Paige M PM; Plaza, Lautaro L; Kellogg, Marissa A MA; Lora, Evelyn G EG; Carson, Robert P RP; Svystilnyk, Victoria V; Venegas, Viviana V; Luke, Rebecca R RR; Jiang, Huiyuan H; Stetsenko, Tetiana T; Dueñas-Roque, Milagros M MM; Trasmonte, Joseph J; Burke, Rebecca J RJ; Hurst, Anna C E ACE; Smith, Douglas M DM; Massingham, Lauren J LJ; Pisani, Laura L; Costin, Carrie E CE; Ostrander, Betsy B; Filloux, Francis M FM; Ananth, Amitha L AL; Mohamed, Ismail S IS; Nechai, Alla A; Dao, Jasmin M JM; Fahey, Michael C MC; Aliu, Ermal E; Falchek, Stephen S; Press, Craig A CA; Treat, Lauren L; Eschbach, Krista K; Starks, Angela A; Kammeyer, Ryan R; Bear, Joshua J JJ; Jacobson, Mona M; Chernuha, Veronika V; Meibos, Bailey B; Wong, Kristen K; Sweney, Matthew T MT; Espinoza, A Chris AC; Van Orman, Colin B CB; Weinstock, Arie A; Kumar, Ashutosh A; Soler-Alfonso, Claudia C; Nolan, Danielle A DA; Raza, Muhammad M; Rojas Carrion, Miguel David MD; Chari, Geetha G; Marsh, Eric D ED; Shiloh-Malawsky, Yael Y; Parikh, Sumit S; Gonzalez-Giraldo, Ernesto E; Fulton, Stephen S; Sogawa, Yoshimi Y; Burns, Kaitlyn K; Malets, Myroslava M; Montiel Blanco, Johnny David JD; Habela, Christa W CW; Wilson, Carey A CA; Guzmán, Guillermo G GG; Pavliuk, Mariia M
Publication Date: 2022-10-31
Variant appearance in text: KCNC1: 959G>A; Arg320His
Progressive Myoclonus Epilepsies: Diagnostic Yield With Next-Generation Sequencing in Previously Unsolved Cases.
Neurology. Genetics
Canafoglia, Laura L; Franceschetti, Silvana S; Gambardella, Antonio A; Striano, Pasquale P; Giallonardo, Anna Teresa AT; Tinuper, Paolo P; Di Bonaventura, Carlo C; Michelucci, Roberto R; Ferlazzo, Edoardo E; Granata, Tiziana T; Magaudda, Adriana A; Licchetta, Laura L; Filla, Alessandro A; La Neve, Angela A; Riguzzi, Patrizia P; Cantisani, Teresa Anna TA; Fanella, Martina M; Castellotti, Barbara B; Gellera, Cinzia C; Bahlo, Melanie M; Zara, Federico F; Courage, Carolina C; Lehesjoki, Anna-Elina AE; Oliver, Karen L KL; Berkovic, Samuel F SF
Publication Date: 2021-12
Variant appearance in text: KCNC1: 959G>A; Arg320His
Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes.
American Journal Of Human Genetics
Courage, Carolina C; Oliver, Karen L KL; Park, Eon Joo EJ; Cameron, Jillian M JM; Grabińska, Kariona A KA; Muona, Mikko M; Canafoglia, Laura L; Gambardella, Antonio A; Said, Edith E; Afawi, Zaid Z; Baykan, Betul B; Brandt, Christian C; di Bonaventura, Carlo C; Chew, Hui Bein HB; Criscuolo, Chiara C; Dibbens, Leanne M LM; Castellotti, Barbara B; Riguzzi, Patrizia P; Labate, Angelo A; Filla, Alessandro A; Giallonardo, Anna T AT; Berecki, Geza G; Jackson, Christopher B CB; Joensuu, Tarja T; Damiano, John A JA; Kivity, Sara S; Korczyn, Amos A; Palotie, Aarno A; Striano, Pasquale P; Uccellini, Davide D; Giuliano, Loretta L; Andermann, Eva E; Scheffer, Ingrid E IE; Michelucci, Roberto R; Bahlo, Melanie M; Franceschetti, Silvana S; Sessa, William C WC; Berkovic, Samuel F SF; Lehesjoki, Anna-Elina AE
Publication Date: 2021-04-01
Variant appearance in text: KCNC1: 959G>A; Arg320His
Progressive myoclonus epilepsy KCNC1 variant causes a developmental dendritopathy.
Epilepsia
Carpenter, Jenna C JC; Männikkö, Roope R; Heffner, Catherine C; Heneine, Jana J; Sampedro-Castañeda, Marisol M; Lignani, Gabriele G; Schorge, Stephanie S
Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy.
Movement Disorders Clinical Practice
Gauquelin, Laurence L; Hartley, Taila T; Tarnopolsky, Mark M; Dyment, David A DA; Brais, Bernard B; Geraghty, Michael T MT; Tétreault, Martine M; Ahmed, Sohnee S; Rojas, Samantha S; Choquet, Karine K; Majewski, Jacek J; Bernier, François F; Innes, Allan Micheil AM; Rouleau, Guy G; Suchowersky, Oksana O; Boycott, Kym M KM; Yoon, Grace G
Publication Date: 2020-11
Variant appearance in text: KCNC1: 959G>A; Arg320His
A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Ganesan, Shiva S; Galer, Peter D PD; Helbig, Katherine L KL; McKeown, Sarah E SE; O'Brien, Margaret M; Gonzalez, Alexander K AK; Felmeister, Alex S AS; Khankhanian, Pouya P; Ellis, Colin A CA; Helbig, Ingo I
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: KCNC1: 959G>A; Arg320His
Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlations.
Annals Of Clinical And Translational Neurology
Cameron, Jillian M JM; Maljevic, Snezana S; Nair, Umesh U; Aung, Ye Htet YH; Cogné, Benjamin B; Bézieau, Stéphane S; Blair, Edward E; Isidor, Bertrand B; Zweier, Christiane C; Reis, André A; Koenig, Mary Kay MK; Maarup, Timothy T; Sarco, Dean D; Afenjar, Alexandra A; Huq, A H M Mahbubul AHMM; Kukolich, Mary M; Billette de Villemeur, Thierry T; Nava, Caroline C; Héron, Bénédicte B; Petrou, Steven S; Berkovic, Samuel F SF
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
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.
Nature Genetics
Muona, Mikko M; Berkovic, Samuel F SF; Dibbens, Leanne M LM; Oliver, Karen L KL; Maljevic, Snezana S; Bayly, Marta A MA; Joensuu, Tarja T; Canafoglia, Laura L; Franceschetti, Silvana S; Michelucci, Roberto R; Markkinen, Salla S; Heron, Sarah E SE; Hildebrand, Michael S MS; Andermann, Eva E; Andermann, Frederick F; Gambardella, Antonio A; Tinuper, Paolo P; Licchetta, Laura L; Scheffer, Ingrid E IE; Criscuolo, Chiara C; Filla, Alessandro A; Ferlazzo, Edoardo E; Ahmad, Jamil J; Ahmad, Adeel A; Baykan, Betul B; Said, Edith E; Topcu, Meral M; Riguzzi, Patrizia P; King, Mary D MD; Ozkara, Cigdem C; Andrade, Danielle M DM; Engelsen, Bernt A BA; Crespel, Arielle A; Lindenau, Matthias M; Lohmann, Ebba E; Saletti, Veronica V; Massano, João J; Privitera, Michael M; Espay, Alberto J AJ; Kauffmann, Birgit B; Duchowny, Michael M; Møller, Rikke S RS; Straussberg, Rachel R; Afawi, Zaid Z; Ben-Zeev, Bruria B; Samocha, Kaitlin E KE; Daly, Mark J MJ; Petrou, Steven S; Lerche, Holger H; Palotie, Aarno A; Lehesjoki, Anna-Elina AE
Publication Date: 2015-01
Variant appearance in text: KCNC1: 959G>A; Arg320His
Age-related mutations associated with clonal hematopoietic expansion and malignancies.
Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L