Mutation in an alternative transcript of CDKL5 in a boy with early-onset seizures

por Bodian, Dale L., Schreiber, John M., Vilboux, Thierry, Khromykh, Alina, Hauser, Natalie S.
Publicado 2018

Telehealth for patients with rare epilepsies

por Kramer, Zachary J., Brandt, Carrin, Havens, Kathryn, Pasupuleti, Archana, Gaillard, William D., Schreiber, John M.
Publicado 2022

Distinguishing Loss-of-Function and Gain-of-Function SCN8A Variants Using a Random Forest Classification Model Trained on Clinical Features

por Hack, Joshua B., Horning, Kyle, Juroske Short, Denise M., Schreiber, John M., Watkins, Joseph C., Hammer, Michael F.
Publicado 2023

OR33-07 ARNT2: A Potential Novel Candidate Gene for Monogenic Obesity in Humans

por Thaker, Vidhu V, Seaby, Eleanor G, Genetti, Casie, Sutherland, Jacob, Ianello, Grazia, Rajabi, Farrah, Schreiber, John M, Doege, Claudia A, Turer, Emre E, Hirschhorn, Joel N, Agrawal, Pankaj B
Publicado 2020

GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine

por Pierson, Tyler Mark, Yuan, Hongjie, Marsh, Eric D, Fuentes-Fajardo, Karin, Adams, David R, Markello, Thomas, Golas, Gretchen, Simeonov, Dimitre R, Holloman, Conisha, Tankovic, Anel, Karamchandani, Manish M, Schreiber, John M, Mullikin, James C, Tifft, Cynthia J, Toro, Camilo, Boerkoel, Cornelius F, Traynelis, Stephen F, Gahl, William A
Publicado 2014