Description: This deficiency mainly affects the brain and patients usually have seizures, which occur in the first few months of their life. Other Names & Associated Gene Mutations GLUT 1 SLC2A1 Associated Gene Mutations
Category: Childhood Epilepsy - Part 2
Glucose Transporter Type I Deficiency Syndrome (Glut DS)
Epilepsy Vocabulary
Frequently Used Terms in Intractable Childhood Epilepsy absence seizure (formerly called petit mal) generalized seizure most common in children; a lapse in consciousness with a blank stare that begins and ends within a few seconds. May be accompanied by rapid eye blinking or chewing movements.
Have Hope
ICE Alliance – Have Hope for Intractable Epilepsies in Children Together we will Improve the Outcome and Reach for the Cure. Epilepsy is a condition where recurrent electrical discharges in the brain disturb the normal functioning of the nervous system. These episodes of disturbance are called seizures. Two or more unprovoked (caused by fever or […]
Vision 20/20 Task Force
ICE Epilepsy Alliance is a member of the American Epilepsy Society’s Vision 20/20 Task Force, a group of advocacy groups committed to improve the lives of patients with epilepsy. At the request of the Department of Health and Human Services Office of the Assistant Secretary for Planning and Evaluation, the National Institutes of Health, and […]