Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Amber Freed"'
Autor:
Sanjana Kalvakuntla, MinJae Lee, Wendy K. Chung, Scott Demarest, Amber Freed, Kyle J. Horning, Terry Jo Bichell, Susan T. Iannaccone, Kimberly Goodspeed
Publikováno v:
Frontiers in Neuroscience, Vol 17 (2023)
IntroductionSLC6A1-related disorder is a genetic neurodevelopmental disorder that is caused by loss of function variants in the SLC6A1 gene. Solute Carrier Family 6 Member 1 (SLC6A1) gene encodes for gamma-aminobutyric acid (GABA) transporter type 1
Externí odkaz:
https://doaj.org/article/5ddf0bcd9f754f219dbeedef88f64c30
Autor:
Kimberly Goodspeed, Lindsay R. Mosca, Nicole C. Weitzel, Kyle Horning, Elijah W. Simon, Anna C. Pfalzer, Maya Xia, Katherine Langer, Amber Freed, Megan Bone, Maria Picone, Terry Jo V. Bichell
Publikováno v:
Frontiers in Neuroscience, Vol 16 (2023)
IntroductionSLC6A1 Neurodevelopmental Disorder (SLC6A1-NDD), first described in 2015, is a rare syndrome caused by a mutation in the SLC6A1 gene which encodes for the GABA Transporter 1 (GAT-1) protein. Epilepsy is one of the most common symptoms in
Externí odkaz:
https://doaj.org/article/045ab631c7d44f84b4a098cd24540ed2
Autor:
Dale C. Hesdorffer, PhD, Barbara L. Kroner, PhD, Jing Shen, PhD, Kathleen Farrell, MB, BCh, BAO, Steve Roberds, PhD, Brandy Fureman, PhD, Brianne McDonald, Lynn Egan, Monika Jones, Monica Weldon, Michael Harris, Kim Rice, Vinez Campbell, Juliann Brandish, Cindy Kercheval, Nichole Villas, Mary Ann Meskis, Vanessa Vogel-Farley, Ilene Miller, JD, Mike Bartenhagen, Heidi Grabenstatter, PhD, Karen Utley, Paige Nues, Angela Cherry, Gina Vozenilek, Scotty Sims, Tracy Dixon Salazar, PhD, Christina SanInocencio, MS, Stephanie Forman, Nora Wong, Kim Bischoff, Julie Walters, Megan O’Boyle, Geraldine Bliss, Audrey Davidow, Lisa Schoyer, Yssa DeWoody, PhD, Kira Wagner, Michael Arcieri, Amber Freed, Kim Nye, Jo Anne Nakagawa, JayEtta Hecker
Publikováno v:
The Journal of Pediatrics: X, Vol 2, Iss , Pp 100021- (2020)
Objective: To evaluate the impact of pediatric sleep disturbances and night-time seizure monitoring of children with rare epilepsy syndromes on the sleep quality and mental health of caregivers. Study design: A cross-sectional study was conducted usi
Externí odkaz:
https://doaj.org/article/4d344e0f844b48a68a42cce3eb0d52ce
Autor:
Amber Freed
Publikováno v:
Cell and Gene Therapy Insights. 6:691-695
Autor:
Byungchan Lim, Sumaiya Iqbal, Catherine A. Brownstein, Kimberly Goodspeed, Rikke S. Møller, Emily de los Reyes, Brandon Prentice, Katrine M Johannesen, Vincenzo Crunelli, Amber Freed, Ingo Helbig, Dianalee McKnight, Dominique Cooper, Annalisa Scimemi, Dennis Lal, Eduardo Pérez-Palma, Jingqiong Kang, Katherine L. Helbig, Arthur Stefanski, Frances C. Shaffo, Scott Demarest, Arthur J. Campbell
Publikováno v:
Brain Communications
Goodspeed, K, Pérez-Palma, E, Iqbal, S, Cooper, D, Scimemi, A, Johannesen, K M, Stefanski, A, Demarest, S, Helbig, K L, Kang, J, Shaffo, F C, Prentice, B, Brownstein, C A, Lim, B, Helbig, I, De Los Reyes, E, McKnight, D, Crunelli, V, Campbell, A J, Møller, R S, Freed, A & Lal, D 2020, ' Current knowledge of SLC6A1-related neurodevelopmental disorders ', Brain Communications, vol. 2, no. 2, fcaa170 . https://doi.org/10.1093/braincomms/fcaa170
Goodspeed, K, Pérez-Palma, E, Iqbal, S, Cooper, D, Scimemi, A, Johannesen, K M, Stefanski, A, Demarest, S, Helbig, K L, Kang, J, Shaffo, F C, Prentice, B, Brownstein, C A, Lim, B, Helbig, I, De Los Reyes, E, McKnight, D, Crunelli, V, Campbell, A J, Møller, R S, Freed, A & Lal, D 2020, ' Current knowledge of SLC6A1-related neurodevelopmental disorders ', Brain Communications, vol. 2, no. 2, fcaa170 . https://doi.org/10.1093/braincomms/fcaa170
Advances in gene discovery have identified genetic variants in the solute carrier family 6 member 1 gene as a monogenic cause of neurodevelopmental disorders, including epilepsy with myoclonic atonic seizures, autism spectrum disorder and intellectua
Autor:
Ilene Miller, Amber Freed, Yssa DeWoody, Kim Nye, Karen Utley, Julie Walters, Heidi L. Grabenstatter, JayEtta Hecker, Jo Anne Nakagawa, Monica Weldon, Mary Ann Meskis, Cindy Kercheval, Dale C. Hesdorffer, Gina Vozenilek, Barbara Kroner, Monika Jones, Vinez Campbell, Nora Wong, Geraldine Bliss, Audrey Davidow, Michael R. Harris, Kira Wagner, Megan O’Boyle, Mike Bartenhagen, Scotty Sims, Kim Rice, Lisa Schoyer, Nichole Villas, Kim Bischoff, Jing Shen, Christina SanInocencio, Kathleen Farrell, Vanessa Vogel-Farley, Lynn Egan, Juliann Brandish, Angela Cherry, Brianne McDonald, Brandy E. Fureman, Steve Roberds, Tracy Dixon Salazar, Michael Arcieri, Paige Nues, Stephanie Forman
Publikováno v:
The Journal of Pediatrics: X, Vol 2, Iss, Pp 100021-(2020)
Objective To evaluate the impact of pediatric sleep disturbances and night-time seizure monitoring of children with rare epilepsy syndromes on the sleep quality and mental health of caregivers. Study design A cross-sectional study was conducted using