Heterozygous de novo mutation in the ATP1A2 gene in a patient with alternating hemiplegia of childhood
Alternating hemiplegia of childhood (AHC) is characterized by recurrent hemiplegic episodes and paroxysmal disorders, dystonia, nystagmus, epileptic seizure, mental retardation, and intellectual impairment. Alternating hemiplegia of childhood is caused by pathogenic variants in the genes encoding α-...
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| Main Authors: | , , , , |
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| Format: | Book |
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Termedia Publishing House,
2023-09-01T00:00:00Z.
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Internet
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |