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

Homozygosity for a Novel <i>DOCK7</i> 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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Bibliographic Details
Main Authors: Fatma Kivrak Pfiffner, Samuel Koller, Anika Ménétrey, Urs Graf, Luzy Bähr, Alessandro Maspoli, Annette Hackenberg, Raimund Kottke, Christina Gerth-Kahlert, Wolfgang Berger
Format: Article
Language:English
Published: MDPI AG 2022-07-01
Series:International Journal of Molecular Sciences
Subjects:
uniparental disomy (UPD)
mUPiD
UPiD
UPhD
loss of heterozygosity (LOH)
early infantile epileptic encephalopathy 23
Online Access:https://www.mdpi.com/1422-0067/23/13/7382

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https://www.mdpi.com/1422-0067/23/13/7382

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