Case Report: A developmental and epileptic encephalopathy 45 due to de novo variant of GABRB1
BackgroundThe gamma-aminobutyric acid (GABA) variant causes developmental and epileptic encephalopathy 45 (DEE45), an autosomal dominant disorder that results in oculocortical visual impairment, reduced muscle tone, psychomotor retardation, and epilepsy. Analysis of the clinical features and genetic...
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| Main Authors: | , , , , , |
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| Format: | Book |
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Frontiers Media S.A.,
2024-04-01T00:00:00Z.
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A1234.567 |
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