Glut1 deficiency syndrome (Glut1 DS) was originally described in 1991 as a developmental
encephalopathy characterized by infantile onset refractory epilepsy, cognitive impairment …

Glucose transporter type 1 deficiency syndrome (GLUT1DS) is the result of impaired glucose
transport into the brain. The “classic” GLUT1DS patient presents with infantile seizures …

" Due to the generous representation of the afferent visual system within the brain,
neurological disease may disrupt vision as a presenting symptom or as a secondary effect of …

Background Mutations in the gene ATP1A3 have recently been identified to be prevalent in
patients with alternating hemiplegia of childhood (AHC2). Based on a large series of …

Background Alternating hemiplegia of childhood (AHC) is a rare neurological disorder
characterised by early-onset episodes of hemiplegia, dystonia, various paroxysmal …

Purpose: Glut 1 deficiency syndrome (DS) is defined by hypoglycorrhachia with
normoglycemia, acquired microcephaly, episodic movements, and epilepsy refractory to …

Background ATP1A3 mutations have now been recognized in infants and children
presenting with a diverse group of neurological phenotypes, including Rapid-onset Dystonia …

GLUT1 deficiency syndrome (GLUT1DS) is caused by impaired glucose transport into brain
and is effectively treated by means of a ketogenic diet. In clinical practice the diagnosis of …

Summary Glucose transporter 1 (GLUT1) deficiency caused by mutations of SLC2A1 is an
increasingly recognized cause of genetic generalized epilepsy. We previously reported …

Objective: We aimed to delineate the clinical and genetic spectrum of ATP1A3-related
disorders and recognition of a potential genotype-phenotype correlation. Methods: We …