Early Infantile Epileptic Encephalopathy Overview
Learn About Early Infantile Epileptic Encephalopathy
- Early Infantile Epileptic Encephalopathy
UCL Queen Square Institute Of Neurology
Reza Maroofian practices in London, United Kingdom. Mr. Maroofian is rated as an Elite expert by MediFind in the treatment of Early Infantile Epileptic Encephalopathy. His top areas of expertise are Early Infantile Epileptic Encephalopathy, Achalasia Microcephaly Syndrome, Microcephaly, Cortical Dysplasia, and Deep Brain Stimulation.
Fowzan Alkuraya is a Pediatrics specialist and a Medical Genetics provider in Boston, Massachusetts. Dr. Alkuraya is rated as an Elite provider by MediFind in the treatment of Early Infantile Epileptic Encephalopathy. His top areas of expertise are Achalasia Microcephaly Syndrome, Microcephaly, Early Infantile Epileptic Encephalopathy, Cortical Dysplasia, and Vitrectomy.
Nicola Specchio practices in Rome, Italy. Ms. Specchio is rated as an Elite expert by MediFind in the treatment of Early Infantile Epileptic Encephalopathy. Her top areas of expertise are Epilepsy, Myoclonic Epilepsy, CLN2 Disease, and Seizures.
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