Characterizing a rare neurogenetic disease, SLC13A5 citrate transporter disorder, utilizing clinical data in a cloud-based medical record collection system
Spelbrink, Emily M, Brown, Tanya L, Brimble, Elise, Blanco, Kirsten A, Nye, Kimberly L, Porter, Brenda E
Published in Frontiers in genetics (21.03.2023)
Published in Frontiers in genetics (21.03.2023)
Get full text
Journal Article
Case studies in neuroscience: a novel amino acid duplication in the NH 2 -terminus of the brain sodium channel Na V 1.1 underlying Dravet syndrome
Angus, Madeline, Peters, Colin H, Poburko, Damon, Brimble, Elise, Spelbrink, Emily M, Ruben, Peter C
Published in Journal of neurophysiology (01.11.2019)
Published in Journal of neurophysiology (01.11.2019)
Get full text
Journal Article
Case studies in neuroscience: a novel amino acid duplication in the NH2-terminus of the brain sodium channel NaV1.1 underlying Dravet syndrome
Angus, Madeline, Peters, Colin H, Poburko, Damon, Brimble, Elise, Spelbrink, Emily M, Ruben, Peter C
Published in Journal of neurophysiology (01.11.2019)
Published in Journal of neurophysiology (01.11.2019)
Get full text
Journal Article
Plasma taurine levels are not affected by vigabatrin in pediatric patients
Spelbrink, Emily M., Mabud, Tarub S., Reimer, Richard, Porter, Brenda E.
Published in Epilepsia (Copenhagen) (01.08.2016)
Published in Epilepsia (Copenhagen) (01.08.2016)
Get full text
Journal Article
A Multicenter Training and Interrater Reliability Study of the BASED Score for Infantile Epileptic Spasms Syndrome
Mytinger, John R, Albert, Dara V F, Aylward, Shawn C, Beatty, Christopher W, Bhalla, Sonam, Bhatia, Sonal, Brock, Guy N, Ciliberto, Micheal A, Choudhari, Purva R, Clark, Daniel J, Cohen, Jennifer Madan, Czech, Theresa M, Fredwall, Megan M, Gonzalez-Giraldo, Ernesto, Harini, Chellamani, Hunter, Senyene E, Sandoval Karamian, Amanda G, Katyayan, Akshat, Kistler, Isaac, Kulkarni, Neil, Liu, Virginia B, McCabe, Corinne, Murray, Thomas, Neville, Kerri, Patel, Shital H, Pavuluri, Spriha, Phillips, Donald J, Samanta, Debopam, Sirsi, Deepa, Spelbrink, Emily M, Stafstrom, Carl E, Steenari, Maija, Takacs, Danielle S, Terrill, Tyler, Tran, Linh, Vidaurre, Jorge, Shrey, Daniel W
Published in Journal of clinical neurophysiology (11.07.2024)
Published in Journal of clinical neurophysiology (11.07.2024)
Get more information
Journal Article
Epilepsy and EEG Phenotype of SLC13A5 Citrate Transporter Disorder
Yang, Qian-Zhou, Spelbrink, Emily M., Nye, Kimberly L., Hsu, Emily R., Porter, Brenda E.
Published in Child neurology open (01.01.2020)
Published in Child neurology open (01.01.2020)
Get full text
Journal Article