GATOR opathies: The role of amino acid regulatory gene mutations in epilepsy and cortical malformations
Author:
Affiliation:
1. Department of Neurology University of Maryland School of Medicine Baltimore Maryland
2. The Clinic for Special Children Strasburg Pennsylvania
3. Department of Neurosurgery Yale University School of Medicine New Haven Connecticut
Funder
U.S. Department of Defense
National Institute of Neurological Disorders and Stroke
Publisher
Wiley
Subject
Neurology (clinical),Neurology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/epi.16370
Reference67 articles.
1. mTOR: A pathogenic signaling pathway in developmental brain malformations
2. Mechanistic Target of Rapamycin (mTOR) in Tuberous Sclerosis Complex-Associated Epilepsy
3. De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly
4. PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia
5. Somatic Mutations in theMTORgene cause focal cortical dysplasia type IIb
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