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: KCNT1: 1283G>A; Arg428Gln
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
Mutation in PHACTR1 associated with multifocal epilepsy with infantile spasms and hypsarrhythmia.
Clinical Genetics
Marakhonov, Andrey V AV; Přechová, Magdalena M; Konovalov, Fedor A FA; Filatova, Alexandra Yu AY; Zamkova, Maria A MA; Kanivets, Ilya V IV; Solonichenko, Vladimir G VG; Semenova, Natalia A NA; Zinchenko, Rena A RA; Treisman, Richard R; Skoblov, Mikhail Yu MY
Publication Date: 2021-05
Variant appearance in text: KCNT1: 1283G>A; Arg428Gln
The Epilepsy of Infancy With Migrating Focal Seizures: Identification of de novo Mutations of the KCNT2 Gene That Exert Inhibitory Effects on the Corresponding Heteromeric KNa1.1/KNa1.2 Potassium Channel.
Frontiers In Cellular Neuroscience
Mao, Xiao X; Bruneau, Nadine N; Gao, Quwen Q; Becq, Hélène H; Jia, Zhengjun Z; Xi, Hui H; Shu, Li L; Wang, Hua H; Szepetowski, Pierre P; Aniksztejn, Laurent L
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: KCNT1: 1283G>A; Arg428Gln
Two South Indian Children with KCNT1-Related Malignant Migrating Focal Seizures of Infancy - Clinical Characteristics and Outcome of Targeted Treatment with Quinidine.
Annals Of Indian Academy Of Neurology
Patil, Abhijit Anil AA; Vinayan, K P KP; Roy, Arun Grace AG
Treatment Responsiveness in KCNT1-Related Epilepsy.
Neurotherapeutics : The Journal Of The American Society For Experimental Neurotherapeutics
Fitzgerald, Mark P MP; Fiannacca, Martina M; Smith, Douglas M DM; Gertler, Tracy S TS; Gunning, Boudewijn B; Syrbe, Steffen S; Verbeek, Nienke N; Stamberger, Hannah H; Weckhuysen, Sarah S; Ceulemans, Berten B; Schoonjans, An-Sofie AS; Rossi, Massimiliano M; Demarquay, Geneviève G; Lesca, Gaetan G; Olofsson, Kern K; Koolen, D A DA; Hornemann, Frauke F; Baulac, Stephanie S; Rubboli, Guido G; Minks, Kelly Q KQ; Lee, Bohoon B; Helbig, Ingo I; Dlugos, Dennis D; Møller, Rikke S RS; Bearden, David D
Early Treatment with Quinidine in 2 Patients with Epilepsy of Infancy with Migrating Focal Seizures (EIMFS) Due to Gain-of-Function KCNT1 Mutations: Functional Studies, Clinical Responses, and Critical Issues for Personalized Therapy.
Neurotherapeutics : The Journal Of The American Society For Experimental Neurotherapeutics
Dilena, Robertino R; DiFrancesco, Jacopo C JC; Soldovieri, Maria Virginia MV; Giacobbe, Antonella A; Ambrosino, Paolo P; Mosca, Ilaria I; Galli, Maria Albina MA; Guez, Sophie S; Fumagalli, Monica M; Miceli, Francesco F; Cattaneo, Dario D; Darra, Francesca F; Gennaro, Elena E; Zara, Federico F; Striano, Pasquale P; Castellotti, Barbara B; Gellera, Cinzia C; Varesio, Costanza C; Veggiotti, Pierangelo P; Taglialatela, Maurizio M
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Genome Research
Traynelis, Joshua J; Silk, Michael M; Wang, Quanli Q; Berkovic, Samuel F SF; Liu, Liping L; Ascher, David B DB; Balding, David J DJ; Petrovski, Slavé S
Publication Date: 2017-10
Variant appearance in text: KCNT1: 1283G>A; Arg428Gln
Quinidine in the treatment of KCNT1-positive epilepsies.
Annals Of Neurology
Mikati, Mohamad A MA; Jiang, Yong-Hui YH; Carboni, Michael M; Shashi, Vandana V; Petrovski, Slave S; Spillmann, Rebecca R; Milligan, Carol J CJ; Li, Melody M; Grefe, Annette A; McConkie, Allyn A; Berkovic, Samuel S; Scheffer, Ingrid I; Mullen, Saul S; Bonner, Melanie M; Petrou, Steven S; Goldstein, David D
Mutations in KCNT1 cause a spectrum of focal epilepsies.
Epilepsia
Møller, Rikke S RS; Heron, Sarah E SE; Larsen, Line H G LH; Lim, Chiao Xin CX; Ricos, Michael G MG; Bayly, Marta A MA; van Kempen, Marjan J A MJ; Klinkenberg, Sylvia S; Andrews, Ian I; Kelley, Kent K; Ronen, Gabriel M GM; Callen, David D; McMahon, Jacinta M JM; Yendle, Simone C SC; Carvill, Gemma L GL; Mefford, Heather C HC; Nabbout, Rima R; Poduri, Annapurna A; Striano, Pasquale P; Baglietto, Maria G MG; Zara, Federico F; Smith, Nicholas J NJ; Pridmore, Clair C; Gardella, Elena E; Nikanorova, Marina M; Dahl, Hans Atli HA; Gellert, Pia P; Scheffer, Ingrid E IE; Gunning, Boudewijn B; Kragh-Olsen, Bente B; Dibbens, Leanne M LM
Publication Date: 2015-09
Variant appearance in text: KCNT1: 1283G>A; Arg428Gln
Human slack potassium channel mutations increase positive cooperativity between individual channels.
Cell Reports
Kim, Grace E GE; Kronengold, Jack J; Barcia, Giulia G; Quraishi, Imran H IH; Martin, Hilary C HC; Blair, Edward E; Taylor, Jenny C JC; Dulac, Olivier O; Colleaux, Laurence L; Nabbout, Rima R; Kaczmarek, Leonard K LK
KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine.
Annals Of Neurology
Milligan, Carol J CJ; Li, Melody M; Gazina, Elena V EV; Heron, Sarah E SE; Nair, Umesh U; Trager, Chantel C; Reid, Christopher A CA; Venkat, Anu A; Younkin, Donald P DP; Dlugos, Dennis J DJ; Petrovski, Slavé S; Goldstein, David B DB; Dibbens, Leanne M LM; Scheffer, Ingrid E IE; Berkovic, Samuel F SF; Petrou, Steven S
Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.
Human Molecular Genetics
Martin, Hilary C HC; Kim, Grace E GE; Pagnamenta, Alistair T AT; Murakami, Yoshiko Y; Carvill, Gemma L GL; Meyer, Esther E; Copley, Richard R RR; Rimmer, Andrew A; Barcia, Giulia G; Fleming, Matthew R MR; Kronengold, Jack J; Brown, Maile R MR; Hudspith, Karl A KA; Broxholme, John J; Kanapin, Alexander A; Cazier, Jean-Baptiste JB; Kinoshita, Taroh T; Nabbout, Rima R; , ; Bentley, David D; McVean, Gil G; Heavin, Sinéad S; Zaiwalla, Zenobia Z; McShane, Tony T; Mefford, Heather C HC; Shears, Deborah D; Stewart, Helen H; Kurian, Manju A MA; Scheffer, Ingrid E IE; Blair, Edward E; Donnelly, Peter P; Kaczmarek, Leonard K LK; Taylor, Jenny C JC