First report of glucose transporter 1 deficiency syndrome in Korea with a novel splice site mutation

Medicine and Dentistry

• Patient 100%
• Glucose 80%
• Glucose Transporter 1 80%
• Cerebrospinal Fluid 60%
• Syndrome 60%
• Glucose Uptake 40%
• Age 40%
• Gene 40%
• Blood 40%
• Erythrocyte 40%
• Epileptic Seizure 40%
• Clinical Feature 20%
• Autosomal Dominant Inheritance 20%
• Drug Therapy 20%
• Modified Atkins Diet 20%
• Ketogenic Diet 20%
• Autosomal Recessive Inheritance 20%
• Apnea 20%
• Developmental Delay 20%
• Intractable Epilepsy 20%
• Ataxia 20%
• Lumbar Puncture 20%
• Tonic Seizure 20%
• Microcephaly 20%
• Parent 20%