TY  - GEN
AU  - Sarmiento-Jiménez, Jorge
AU  - Felipe, Raquel
AU  - Núñez, Enrique
AU  - Ferrando-Muñoz, Alejandro
AU  - Benito-Muñoz, Cristina
AU  - Gago, Federico
AU  - Vázquez, Jesús
AU  - Camafeita, Emilio
AU  - Clement, Emma
AU  - Wilson, Brian
AU  - López-Corcuera, Beatriz
PY  - 2025
UR  - https://hdl.handle.net/20.500.12105/27021
AB  - Hyperekplexia (OMIM 149400), a sensorimotor syndrome of perinatal clinical relevance, causes newborns to display an energic startle reflex in response to certain trivial stimuli. This condition can be lethal due to apnea episodes. The disease is...
LA  - eng
PB  - MDPI
KW  - GlyT2 variant
KW  - UPR
KW  - glycine transport
KW  - hyperekplexia
KW  - lipid raft
KW  - proteome
TI  - A New GlyT2 Variant Associated with Hyperekplexia.
TY  - research article
ER  -