Early Infantile Epileptic Encephalopathy Overview
Learn About Early Infantile Epileptic Encephalopathy
- Early Infantile Epileptic Encephalopathy
Paoli Family Medicine
Amy Walker is a Family Medicine provider in Paoli, Pennsylvania. Dr. Walker and is rated as an Experienced provider by MediFind in the treatment of Early Infantile Epileptic Encephalopathy. Her top areas of expertise are Sitosterolemia, High Cholesterol, Endocarditis, and Congenital Hyperinsulinism.
University Of Penn - Medical Group
Eric Lancaster is a Neurologist in West Chester, Pennsylvania. Dr. Lancaster and is rated as an Advanced provider by MediFind in the treatment of Early Infantile Epileptic Encephalopathy. His top areas of expertise are Encephalitis, Paraneoplastic Cerebellar Degeneration, Anti-NMDA Receptor Encephalitis, and Isaacs' Syndrome.
Ingo Helbig is a Pediatrics specialist and a Neurologist in Philadelphia, Pennsylvania. Dr. Helbig and is rated as an Advanced provider by MediFind in the treatment of Early Infantile Epileptic Encephalopathy. His top areas of expertise are Epilepsy, West Syndrome, Myoclonic Epilepsy, and Spasmus Nutans.
Summary: This observational natural history study will follow individuals with MEHMO (Mental disability, Epileptic seizure, Hypopituitarism/Hypogenitalism, Microcephaly, Obesity) syndrome or an eIF2-pathway related disorder, who have symptoms such as intellectual delay, seizures, abnormal hormone and blood sugar levels, and decreased motor skills. No current treatment for these conditions is available. A m...
Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center