A novel truncating mutation of DOCK7 gene with an early-onset non-encephalopathic epilepsy
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Premature stop codon mutations in DOCK7 resulting in truncated protein are linked to epileptic encephalopathy and cortical blindness.
“In keeping with observations that DOCK7 is crucial for neural processes, several studies have identified pathological links between premature stop codon mutations in DOCK7 that resulted in truncated protein and epileptic encephalopathy and cortical blindness (110, 111, 112).”
From RHO to the DOCK for GDP disembarking: Structural insights into the DOCK GTPase nucleotide exchange factors (2021) · cites this paper as [111]
The Abstract reports earlier cases linking truncating DOCK7 mutations to epileptic encephalopathy. This paper’s own Case report describes a truncating mutation and an examination interpreted as cortical blindness, but the Abstract and Discussion explicitly describe the patient’s epilepsy as non-encephalopathic. Thus, the cited study supports the broader association, not encephalopathy in its own patient. (LLM, conf=0.88)
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Cites
Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W. W., Hegde, M., Lyon, E., Spector, E., et al. (2015) · Genetics in Medicine · doi:10.1038/gim.2015.30 · Cited by 32,594 · see citing works
Mutations in DOCK7 in Individuals with Epileptic Encephalopathy and Cortical Blindness
Perrault, I., Hamdan, F. F., Rio, M., Capo-Chichi, J.-M., Boddaert, N., Décarie, J.-C., Maranda, B., Nabbout, R., Sylvain, M., Lortie, A., et al. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.04.012 · Cited by 50 · see citing works
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Research works printed but not linked: 2
- Yang YT, Wang CL, Van Aelst L. DOCK7 interacts with TACC3 to regulate interkinetic nuclear migration and cortical neurogenesis. Nature Neurosci 2012;15:1201-10.
- Nakamuta S, Yang YT, Wang CL, Gallo NB, Yu JR Tai Y, et al. Dual role for DOCK7 in tangential migration of interneuron precursors in the postnatal forebrain. J Cell Biol 2017;216:4313-30.
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Thompson, A. P., Bitsina, C., Gray, J. L., von Delft, F., & Brennan, P. E. (2021) · Journal of Biological Chemistry · doi:10.1016/j.jbc.2021.100521 · Cited by 21 · see citing works
- Authors
- Turkdogan, D., Turkyilmaz, A., Gormez, Z., Sager, G., & Ekinci, G.
- Affiliations
- Marmara University (TR)
- ORCID
- Ekinci, Gazanfer
- Venue
- Seizure
- Publisher
- Elsevier BV
- Published
- 2019-03
- Volume
- 66
- Pages
- 12-14
- ISSN
- 1059-1311 (ISSN-L)
- OpenAlex
- W2908595365
- Cited by
- 8
- References
- 2
- Citations by year
- 2026: 2 · 2023: 1 · 2022: 2 · 2021: 3
- FWCI
- 1.00
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Seizure (publishedVersion)
- PubMed (publishedVersion)
- Dspace Repository (Marmara Üniversitesi) (submittedVersion, other-oa)
- Funders
- Marmara University Scientific Research Committee (B-120516-0209)
- Topics
- Health Sciences › Medicine › Psychiatry and Mental health › Epilepsy research and treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- DOCK7, truncating mutations, early-onset epilepsy, neurogenesis, radial glia, basal progenitors, forebrain development
- MeSH terms
- Child, Preschool, Epilepsy, Humans, Male, Mutation, Guanine Nucleotide Exchange Factors, GTPase-Activating Proteins
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