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Characteristic facial features and cortical blindness distinguish the DOCK7‐related epileptic encephalopathy
BACKGROUND: The epileptic encephalopathies display extensive locus and allelic heterogeneity. Biallelic truncating DOCK7 variants were recently reported in five children with early‐onset epilepsy, intellectual disability, and cortical blindness, indicating that DOCK7 deficiency causes a specific typ...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8104163/ https://www.ncbi.nlm.nih.gov/pubmed/33471954 http://dx.doi.org/10.1002/mgg3.1607 |