HemimegalencephalySymptoms, Doctors, Treatments, Advances & More
Hemimegalencephaly Overview
Learn About Hemimegalencephaly
- Hemimegalencephaly
- Macrencephaly
- Unilateral Megalencephaly
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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, Increased Head Circumference, Cortical Dysplasia, and Epilepsy.
Kenji Sugai practices practicing medicine in Tokyo, Japan. Mr. Sugai is rated as an Elite expert by MediFind in the treatment of Hemimegalencephaly. He is also highly rated in 15 other conditions, according to our data. His clinical expertise encompasses Hemimegalencephaly, Epilepsy in Children, Increased Head Circumference, and Seizures.
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, Cerebellar Hypoplasia, Cortical Dysplasia, and Lissencephaly. Dr. Dobyns is currently accepting new patients.
Summary: Brain somatic mutations affecting genes of the mTOR signaling pathway are a well-established cause of cortical malformations, including focal cortical dysplasia and hemimegalencephaly. Somatic mutations in SLC35A2 have been identified in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE), while activating somatic mutations in the SHH pathway are associa...
Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center