Homozygosity for a Novel DOCK7 Variant Due to Segmental Uniparental Isodisomy of Chromosome 1 Associated with Early Infantile Epileptic Encephalopathy (EIEE) and Cortical Visual Impairment

Early infantile epileptic encephalopathy (EIEE) is a severe neurologic and neurodevelopmental disease that manifests in the first year of life. It shows a high degree of genetic heterogeneity, but the genetic origin is only identified in half of the cases. We report the case of a female child initia...

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Detalles Bibliográficos
Autores principales: Kivrak Pfiffner, Fatma, Koller, Samuel, Ménétrey, Anika, Graf, Urs, Bähr, Luzy, Maspoli, Alessandro, Hackenberg, Annette, Kottke, Raimund, Gerth-Kahlert, Christina, Berger, Wolfgang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9266905/
https://www.ncbi.nlm.nih.gov/pubmed/35806387
http://dx.doi.org/10.3390/ijms23137382

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9266905/
https://www.ncbi.nlm.nih.gov/pubmed/35806387
http://dx.doi.org/10.3390/ijms23137382

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