HemimegalencephalySymptoms, Doctors, Treatments, Advances & More
Hemimegalencephaly Overview
Learn About Hemimegalencephaly
- Hemimegalencephaly
- Macrencephaly
- Unilateral Megalencephaly
Children's National Hospital
Tammy Tsuchida is a Neurologist practicing medicine in Washington, Washington, D.c.. 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.
Office
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.
Fairview Express Care
William Dobyns is a Medical Genetics specialist and a Pediatrics provider 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 currently accepting new patients.
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...
Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center