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Definition

A neurologic disorder showing wide phenotypic variability. The most severe 'classic' phenotype comprises infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, motor incoordination, and spasticity. Onset of seizures, usually characterized by apneic episodes, staring spells, and episodic eye movements, occurs within the first 4 months of life. Other paroxysmal findings include intermittent ataxia, confusion, lethargy, sleep disturbance, and headache. Varying degrees of cognitive impairment can occur, ranging from learning disabilities to severe mental retardation.

Acronym

GLUT1DS1

Synonyms

Blood-brain barrier glucose transport defect
Encephalopathy due to GLUT1 deficiency
GLUT-1 deficiency syndrome
GLUT1 deficiency
GLUT1 deficiency syndrome autosomal recessive

Keywords

Epilepsy