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...

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Detalles Bibliográficos
Autores principales: Haberlandt, Edda, Valovka, Taras, Janjic, Tanja, Müller, Thomas, Blatsios, Georgios, Karall, Daniela, Janecke, Andreas R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
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

Internet

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

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