关键词: CACNA1G T-type calcium channel blockers broad hallux early-onset severe spinocerebellar ataxia 42 with neurodevelopmental deficits (SCA42ND) zonisamide
Mesh : Age of Onset Alleles Calcium Channels, T-Type / genetics Child, Preschool Epilepsy / complications diagnostic imaging drug therapy genetics Female Gain of Function Mutation / genetics Humans Infant Male Muscle Hypotonia / complications diagnostic imaging drug therapy genetics Mutation Pedigree Phenotype Spinocerebellar Ataxias / complications diagnostic imaging drug therapy genetics Zonisamide / administration & dosage
来 源:
DOI:10.1002/ajmg.a.61939
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