Hemimegalencephaly
Symptoms, Doctors, Treatments, Advances & More

Hemimegalencephaly Overview

Save information for later
Sign Up

Learn About Hemimegalencephaly

What is the definition of Hemimegalencephaly?
Hemimegalencephaly is a rare malformation involving one side of the brain. It may occur alone or in association with other syndromes such as Proteus syndrome, tuberous sclerosis, linear sebaceous nevus syndrome, neurofibromatosis, Sturge-Weber syndrome, or Klippel-Trenaunay syndrome. Children with this disorder may have a large, asymmetrical head accompanied by seizures, partial paralysis, and impaired cognitive development. The cause of Hemimegalencephaly is not fully understood, but involves a disturbance of cells early in development and likely involves genes involved in patterning and symmetry.
What are the alternative names for Hemimegalencephaly?
  • Hemimegalencephaly
  • Macrencephaly
  • Unilateral Megalencephaly
Who are the top Hemimegalencephaly Local Doctors?
Elite in Hemimegalencephaly
Dr. Gary Mathern
Neurosurgery
Elite in Hemimegalencephaly
Dr. Gary Mathern
Neurosurgery

Office

5767 W Century Blvd Ste 200, 
Los Angeles, CA 
310-825-9111
Languages Spoken:
English

Gary Mathern is a Neurosurgery provider in Los Angeles, California. Dr. Mathern is rated as an Elite provider by MediFind in the treatment of Hemimegalencephaly. His top areas of expertise are Hemimegalencephaly, Cortical Dysplasia, Increased Head Circumference, and Epilepsy.

Elite in Hemimegalencephaly
Kenji Sugai
Elite in Hemimegalencephaly
Kenji Sugai
Tokyo, JP 

Kenji Sugai practices in Tokyo, Japan. Mr. Sugai is rated as an Elite expert by MediFind in the treatment of Hemimegalencephaly. His top areas of expertise are Hemimegalencephaly, Epilepsy in Children, Increased Head Circumference, and Seizures.

 
 
 
 
Learn about our expert tiers
Learn More
Elite in Hemimegalencephaly
Dr. William B. Dobyns
Medical Genetics | Pediatrics | Pediatric Neurology
Elite in Hemimegalencephaly
Dr. William B. Dobyns
Medical Genetics | Pediatrics | Pediatric Neurology
5841 S Maryland Ave, Mc 0077, 
Chicago, IL 
773-834-0525
Languages Spoken:
English
See accepted insurances
Accepting New Patients

William Dobyns is a Medical Genetics specialist and a Pediatrics provider in Chicago, Illinois. Dr. Dobyns is rated as an Elite provider by MediFind in the treatment of Hemimegalencephaly. His top areas of expertise are Increased Head Circumference, Cerebellar Hypoplasia, Lissencephaly, and Cortical Dysplasia. Dr. Dobyns is currently accepting new patients.

View All Doctors
What are the latest Hemimegalencephaly Clinical Trials?
Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies
Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies
Enrollment Status: Recruiting
Publish Date: January 06, 2026
Intervention Type: Genetic

Summary: Brain somatic mutations in genes belonging to the mTOR signaling pathway are a frequent cause of cortical malformations, including focal cortical dysplasia and hemimegalencephaly, while SLC35A2 mutations are identified in MOGHE. This study aims to identify brain somatic mutations in paired blood-brain samples and perform functional validation in children with drug-resistant focal epilepsy

Match to trials
Find the right clinical trials for you in under a minute
Get started
View All Clinical Trials
Who are the sources who wrote this article ?

Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center