Hemimegalencephaly
What's New
Last Posted: Feb 24, 2023
- Detection of Brain Somatic Mutations in Cerebrospinal Fluid from Refractory Epilepsy Patients.
Kim Seyeon, et al. Annals of neurology 2021 0 (6) 1248-1252 - Somatic variants in diverse genes leads to a spectrum of focal cortical malformations.
Lai Dulcie, et al. Brain : a journal of neurology 2022 0 (8) 2704-2720 - [Genotype and phenotype of children with DEPDC5 gene variants related epilepsy].
Liu W W et al. Zhonghua er ke za zhi = Chinese journal of pediatrics 2021 59(10) 859-864 - Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia.
D'Gama Alissa M, et al. Annals of neurology 2015 4 (4) 720-5 - Hemimegalencephaly
From NCATS Genetic and Rare Diseases Information Center
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 25, 2024
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