Epileptic Encephalopathy <i>GABRB</i> Structural Variants Share Common Gating and Trafficking Defects
Variants in the <i>GABRB</i> gene, which encodes the β subunit of the GABA<sub>A</sub> receptor, have been implicated in various epileptic encephalopathies and related neurodevelopmental disorders such as Dravet syndrome and Angelman syndrome. These conditions are often assoc...
| Autores principales: | , , , |
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| Formato: | Artículo |
| Lenguaje: | English |
| Publicado: |
MDPI AG
2023-12-01
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| Colección: | Biomolecules |
| Materias: | |
| Acceso en línea: | https://www.mdpi.com/2218-273X/13/12/1790 |