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Generalized tonic-clonic seizures can cause people to momentarily lose consciousness, bite their lips, or drool. Generalized tonic-clonic seizures (once known as grand mal seizures), usually last a minute or more and are characterized by stiffening of the limbs (tonic phase) and then repeated jerking of the limbs and face (clonic phase). Five different seizure types can occur including generalized tonic or clonic, myoclonic, atypical absence, atonic and unclassified. In some individuals, seizures may be a daily occurrence in other individuals, seizures may be separated by days, weeks, or months. The type, frequency and severity of seizures vary from one individual to another. The classic presentation of Glut1DS is the development of seizures during infancy usually during the first six months of life. Affected individuals should talk to their physician and medical team about their specific clinical features, standard management and prognosis. It is important to note that affected individuals may not have all the classic symptoms discussed below or may have less severe symptoms. Mild cases often go undiagnosed, while other cases can potentially lead to severe, debilitating complications. The symptoms and severity can vary dramatically from one individual to another. Glut1DS represents a clinical spectrum disease.
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Epilepsy commonly presents in infancy whereas PED commonly emerges in late childhood and adolescence. Paroxysmal exercise-induced dyskinesias (PED), also known previously as dystonia 18 and dystonia 9, are now considered part of the Glut1DS spectrum. Epileptic encephalopathies are a group of disorders in which seizure activity is associated with progressive psychomotor dysfunction. Glut1DS is classified as an epileptic encephalopathy. The disorder is also known as De Vivo disease. Glut1DS was first described in the medical literature in 1991 by Dr. Glut1DS does not respond to traditional epilepsy treatments (e.g., anti-seizure medications), but is successfully treated with the ketogenic diet. Rarely, the condition also may be inherited in an autosomal recessive pattern. Glut1DS is caused by changes (mutations) in the SLC2A1 gene and is inherited in an autosomal dominant pattern. Additional symptoms that can occur include abnormal eye-head movements, body movement disorders, developmental delays, and varying degrees of cognitive impairment, slurred speech and language abnormalities. For example, some affected individuals may not develop epilepsy. However, the symptoms and severity of Glut1DS can vary substantially from one person to another. The most common symptom is seizures (epilepsy), which usually begin within the first few months of life. Glucose transporter type 1 deficiency syndrome (Glut1DS) is a rare genetic metabolic disorder characterized by deficiency of a protein that is required for glucose (a simple sugar) to cross the blood-brain barrier and other tissue barriers. 5 Myths About Orphan Drugs and the Orphan Drug Act.Information on Clinical Trials and Research Studies.