Type 1 early infantile epileptic encephalopathy: A case report and literature review
Abstract Background Variants in the Aristaless‐related homeobox (ARX) gene lead to a variety of phenotypes, with intellectual disability being a steady feature. Other features can include severe epilepsy, spasticity, movement disorders, hydranencephaly, and ambiguous genitalia in males. X‐linked Oht...
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| Hauptverfasser: | , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Wiley
2024-02-01
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| Schriftenreihe: | Molecular Genetics & Genomic Medicine |
| Schlagworte: | |
| Online-Zugang: | https://doi.org/10.1002/mgg3.2412 |
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