Glucose transporters (GLUTs) at the blood-brain barrier maintain the continuous high
glucose and energy demands of the brain. They also act as therapeutic targets and provide …

Introduction: Epilepsy is a common neurological disorder characterized by recurrent
unprovoked seizures. More than 500 epilepsy-associated genes have been described in the …

Introduction: Therapy with current antiepileptic drugs aims at reducing the likelihood of
seizure occurrence rather than influencing the underlying disease process. Therefore …

Historically, the syndrome of primary paroxysmal dyskinesias was considered a group of
disorders as a result of ion channel dysfunction. This proposition was primarily based on the …

Objective: To describe a characteristic paroxysmal eye–head movement disorder that occurs
in infants with Glut1 deficiency syndrome (Glut1 DS). Methods: We retrospectively reviewed …

Hereditary paroxysmal dyskinesias (PxD) are a heterogeneous group of movement
disorders classified by frequency, duration, and triggers of the episodes. A young-adult …

Gene identification in epilepsy has mainly been limited to large families segregating genes
of major effect and de novo mutations in epileptic encephalopathies. Many families that …

Introduction Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is a rare metabolic
encephalopathy with a wide variation of clinical phenotypes. Familial variants are often …

Purpose To provide imaging biomarkers of generalized spike-and-wave discharges (GSWD)
in patients with GLUT1 deficiency syndrome (GLUT1DS). Methods Eighteen GLUT1DS …

В статье приводится описание 6 клинических случаев синдрома дефицита
транспортера глюкозы тип 1 (GLUT1, болезнь Де Виво) у детей, поступивших в …