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: TSC2: 2108G>A; Trp703*
Survey of somatic mutations in tuberous sclerosis complex (TSC) hamartomas suggests different genetic mechanisms for pathogenesis of TSC lesions.
American Journal Of Human Genetics
Niida, Y Y; Stemmer-Rachamimov, A O AO; Logrip, M M; Tapon, D D; Perez, R R; Kwiatkowski, D J DJ; Sims, K K; MacCollin, M M; Louis, D N DN; Ramesh, V V