TY  - GEN
AU  - Jiménez Legido, M
AU  - Cortés Ledesma, C
AU  - Bernardino Cuesta, B
AU  - López Marín, L
AU  - Cantarín Extremera, V
AU  - Pérez-Cerdá, C
AU  - Pérez González, B
AU  - Lopez-Martin, Estrella
AU  - González Gutiérrez-Solana, L
PY  - 2022
DO  - 10.1016/j.nrleng.2018.10.023
UR  - http://hdl.handle.net/20.500.12105/14127
AB  - [EN] Introduction: Glucose transporter type 1 (GLUT1) deficiency syndrome may present a range of phenotypes, including epilepsy, intellectual disability, and movement disorders. The majority of patients present low CSF glucose levels and/or defects in...
LA  - eng
PB  - Elsevier
KW  - Ausencias precoces
KW  - Discinesia paroxística
KW  - Early-onset absence epilepsy
KW  - Epilepsia refractaria
KW  - GLUT1
KW  - Hipoglucorraquia
KW  - Low CSF glucose
KW  - Paroxismal dyskinesia
KW  - Refractory epilepsy.
KW  - SLC2A1
TI  - Study of paediatric patients with the clinical and biochemical phenotype of glucose transporter type 1 deficiency syndrome
T2  - Estudio de pacientes pediátricos con fenotipo clínico y bioquímico de síndrome de déficit de transportador de glucosa cerebral (GLUT-1)
TY  - review article
ER  -