No abstract available
MeSH terms
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Cerebellar Ataxia / genetics*
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Cerebellar Ataxia / physiopathology*
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Child
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Child, Preschool
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Female
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Foot Deformities, Congenital / genetics*
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Foot Deformities, Congenital / physiopathology*
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Hearing Loss, Sensorineural / genetics*
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Hearing Loss, Sensorineural / physiopathology*
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Hemiplegia / genetics*
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Hemiplegia / physiopathology*
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Humans
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Male
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Mutation, Missense
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Optic Atrophy / genetics*
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Optic Atrophy / physiopathology*
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Phenotype
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Reflex, Abnormal / genetics*
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Sodium-Potassium-Exchanging ATPase / genetics*
Substances
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ATP1A3 protein, human
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Sodium-Potassium-Exchanging ATPase
Supplementary concepts
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Alternating hemiplegia of childhood
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CAPOS syndrome