SZT2 的突变导致早发性癫痫性脑病和白质脑病。
关键词: SZT2 early-onset epileptic encephalopathy leukoencephalopathy myelination whole exome sequencing
Mesh : Amino Acid Transport Systems, Acidic / deficiency genetics Antiporters / deficiency genetics Child, Preschool Developmental Disabilities / genetics Female Hereditary Central Nervous System Demyelinating Diseases / diagnostic imaging etiology genetics Heterozygote Humans Infant Leukoencephalopathies / diagnostic imaging etiology genetics Magnetic Resonance Imaging Megalencephaly / diagnostic imaging genetics Mitochondrial Diseases / diagnostic imaging etiology genetics Mutation Nerve Tissue Proteins / genetics Psychomotor Disorders / diagnostic imaging etiology genetics Spasms, Infantile / diagnostic imaging etiology genetics
来 源:
DOI:10.1002/ajmg.a.38717
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