Hemimegalencephaly
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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
Pediatric Neurology
Elite in Hemimegalencephaly
Pediatric Neurology
Referral may be required

Frederick

5285 Westview Drive, Suite 103, 
Frederick, MD 
Experience:
29+ years
Languages Spoken:
English
Offers Telehealth

Tammy Tsuchida, MD, PhD, is a professor in the departments of Neurology and Pediatrics at the George Washington University School of Medicine and Health Sciences. She completed her fellowships in child neurology and neurophysiology at the University of California, San Francisco, after finishing medical school at Columbia University Vagelos College of Physicians and Surgeons in 1997. At Children's National Hospital, she is a co-director of the Hemimegalencephaly (HME) Program. She consults and teaches in the Neonatal Neurocritical Care Program and Comprehensive Pediatric Epilepsy Program. Her areas of interest are the study and clinical care of neonates and infants with brain injury, seizures and epilepsy as well as neonatal electroencephalogram (EEG). Dr. Tsuchida has made significant contributions to national EEG guidelines and international recommendations for managing neonatal seizures and epilepsy. Dr. Tsuchida is rated as an Elite provider by MediFind in the treatment of Hemimegalencephaly. She is also highly rated in 11 other conditions, according to our data. Her clinical expertise encompasses Epilepsy in Children, Hemimegalencephaly, Seizures, Epilepsy, and Liver Embolization. Dr. Tsuchida is board certified in Epilepsy: American Board Of Psychiatry And Neurology, 2018, Clinical Neurophysiology: American Board Of Psychiatry And Neurology, 2009, and American Board Of Psychiatry And Neurology, 2003.

Elite in Hemimegalencephaly
Pediatrics | Neurology | Medical Genetics
Elite in Hemimegalencephaly
Pediatrics | Neurology | Medical Genetics
Referral may be required

M Health Fairview Explorer Pediatric Specialty Clinic

2450 Riverside Avenue, Floor 12, 
Minneapolis, MN 
Experience:
48+ years
Languages Spoken:
English
Accepting New Patients

William Dobyns is a Pediatrics specialist and a Neurologist practicing medicine in Minneapolis, Minnesota. He has been practicing medicine for over 48 years. Dr. Dobyns is rated as an Elite provider by MediFind in the treatment of Hemimegalencephaly. He is also highly rated in 46 other conditions, according to our data. His clinical expertise encompasses Increased Head Circumference, Lissencephaly, Cerebellar Hypoplasia, and Cortical Dysplasia. Dr. Dobyns is board certified in Clinical Genetics And Genomics: American Board Of Medical Genetics And Genomics, 1987. Dr. Dobyns is currently accepting new patients.

 
 
 
 
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Elite in Hemimegalencephaly
Neurosurgery
Elite in Hemimegalencephaly
Neurosurgery
Referral may be required

Office

5767 W Century Blvd Ste 200, 
Los Angeles, CA 
Languages Spoken:
English

Gary Mathern is a Neurosurgery provider practicing medicine in Los Angeles, California. Dr. Mathern is rated as an Elite provider by MediFind in the treatment of Hemimegalencephaly. He is also highly rated in 9 other conditions, according to our data. His clinical expertise encompasses Hemimegalencephaly, Cortical Dysplasia, Increased Head Circumference, and Epilepsy.

What are the latest Hemimegalencephaly Clinical Trials?
Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies

Summary: Brain somatic mutations are increasingly recognized as a major cause of focal epilepsies. These include mTOR pathway mutations underlying cortical malformations such as focal cortical dysplasia and hemimegalencephaly, and SLC35A2 mutations in MOGHE, and activating variants in the SHH pathway in hypothalamic hamartomas. This study aims to identify brain somatic mutations using paired blood-brain sa...

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