Cargando…
Paroxysmal eye–head movements in Glut1 deficiency syndrome
OBJECTIVE: To describe a characteristic paroxysmal eye–head movement disorder that occurs in infants with Glut1 deficiency syndrome (Glut1 DS). METHODS: We retrospectively reviewed the medical charts of 101 patients with Glut1 DS to obtain clinical data about episodic abnormal eye movements and anal...
Autores principales: | Pearson, Toni S., Pons, Roser, Engelstad, Kristin, Kane, Steven A., Goldberg, Michael E., De Vivo, Darryl C. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Lippincott Williams & Wilkins
2017
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5405761/ https://www.ncbi.nlm.nih.gov/pubmed/28341645 http://dx.doi.org/10.1212/WNL.0000000000003867 |
Ejemplares similares
-
Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group
por: Klepper, Joerg, et al.
Publicado: (2020) -
Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome
por: Tayebi, Naeimeh, et al.
Publicado: (2023) -
Paroxysmal Nonepileptic Events in Glut1 Deficiency
por: Klepper, Joerg, et al.
Publicado: (2016) -
Paroxysmal Exercise-induced Dyskinesias Caused by GLUT1 Deficiency Syndrome
por: Mongin, Marie, et al.
Publicado: (2016) -
Exploring diazoxide and continuous glucose monitoring as treatment for Glut1 deficiency syndrome
por: Logel, Santhi N., et al.
Publicado: (2021)