Early Infantile Epileptic EncephalopathySymptoms, Doctors, Treatments, Advances & More
Early Infantile Epileptic Encephalopathy Overview
Learn About Early Infantile Epileptic Encephalopathy
- Early Infantile Epileptic Encephalopathy
UCL Queen Square Institute Of Neurology
Reza Maroofian practices practicing medicine in London, United Kingdom. Mr. Maroofian is rated as an Elite expert by MediFind in the treatment of Early Infantile Epileptic Encephalopathy. He is also highly rated in 53 other conditions, according to our data. His clinical expertise encompasses 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 practicing medicine in Boston, Massachusetts. Dr. Alkuraya is rated as an Elite provider by MediFind in the treatment of Early Infantile Epileptic Encephalopathy. He is also highly rated in 71 other conditions, according to our data. His clinical expertise encompasses Achalasia Microcephaly Syndrome, Microcephaly, Early Infantile Epileptic Encephalopathy, Cortical Dysplasia, and Vitrectomy.
Nicola Specchio practices practicing medicine in Rome, Italy. Ms. Specchio is rated as an Elite expert by MediFind in the treatment of Early Infantile Epileptic Encephalopathy. She is also highly rated in 39 other conditions, according to our data. Her clinical expertise encompasses Epilepsy, Myoclonic Epilepsy, CLN2 Disease, Seizures, and Deep Brain Stimulation.
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