Conditions / Genetic
glucose transporter type 1 deficiency syndrome 1
info · Genetic
A glucose transporter type 1 deficiency syndrome characterized by infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, and complex movement disorders.
Signs and symptoms
- Short stature
- Seizure
- Gait ataxia
- Hypotonia
- Slurred speech
- Hypoglycorrhachia
- Intellectual disability
- Delayed speech and language development
- Interictal EEG abnormality
- Dysarthria
Also known as: De Vivo disease; GLUT1 deficiency syndrome 1; GLUT1DS1; classic GLUT1 deficiency syndrome; classic GLUT1-DS