Hemimegalencephaly Overview

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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 W. Mathern
Neurosurgery | General Surgery
Elite in Hemimegalencephaly
Dr. Gary W. Mathern
Neurosurgery | General Surgery
300 Medical Plz, #200, 
Los Angeles, CA 
310-825-9111
Languages Spoken:
English

Gary Mathern is a Neurosurgery specialist and a General Surgeon 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.

 
 
 
 
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Elite in Hemimegalencephaly
Dr. William B. Dobyns
Medical Genetics | Pediatrics | Pediatric Neurology
Elite in Hemimegalencephaly
Dr. William B. Dobyns
Medical Genetics | Pediatrics | Pediatric Neurology

Fairview Express Care

2450 Riverside Ave, 
Minneapolis, MN 
612-672-7422
Experience:
47+ years
Languages Spoken:
English
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Accepting New Patients

William Dobyns is a Medical Genetics specialist and a Pediatrics provider in Minneapolis, Minnesota. Dr. Dobyns has been practicing medicine for over 47 years and is rated as an Elite provider by MediFind in the treatment of Hemimegalencephaly. His top areas of expertise are Increased Head Circumference, Lissencephaly, Cerebellar Hypoplasia, and Cortical Dysplasia. Dr. Dobyns is currently accepting new patients.

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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: December 13, 2023
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 or hemimegalencephaly. The present study aims to search for brain somatic mutations in paired blood-brain samples and perform functional validation in children with drug-resistant focal epilepsy

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Who are the sources who wrote this article ?

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