ArticleAnnals of neurology2013
Mutations in TNK2 in severe autosomal recessive infantile onset epilepsy.
Article in Annals of neurology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 34 citations in OpenAlex.
- Transcriptomic profiles of susceptibility and resilience to stress in the amygdala and hippocampus of male rats.Neurobiology of stress · 2025Article
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- ZNF692 promotes osteosarcoma cell proliferation, migration, and invasion through TNK2-mediated activation of the MEK/ERK pathway.Biology direct · 2024Article
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- Integrated regulation of dopaminergic and epigenetic effectors of neuroprotection in Parkinson's disease models.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- ACK1 is dispensable for development, skin tumor formation, and breast cancer cell proliferation.FEBS open bio · 2021Article
- A Novel 3q29 Deletion in Association With Developmental Delay and Heart Malformation-Case Report With Literature Review.Frontiers in pediatrics · 2019Article
- Lessons learned from gene identification studies in Mendelian epilepsy disorders.European journal of human genetics : EJHG · 2016Review
- Whole-Exome Sequencing in Familial Parkinson Disease.JAMA neurology · 2016Article
- Review
- Article
- De novo mutations in epileptic encephalopathies.Nature · 2013Article
Corrections and comments
- Commented on byReply.2017
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Authors and funding
17 authors at 8 institutions in 3 countries.
Funding
Abstract
We identified a small family with autosomal recessive, infantile onset epilepsy and intellectual disability. Exome sequencing identified a homozygous missense variant in the gene TNK2, encoding a brain-expressed tyrosine kinase. Sequencing of the coding region of TNK2 in 110 patients with a similar phenotype failed to detect further homozygote or compound heterozygote mutations. Pathogenicity of the variant is supported by the results of our functional studies, which demonstrated that the variant abolishes NEDD4 binding to TNK2, preventing its degradation after epidermal growth factor stimulation. Definitive proof of pathogenicity will require confirmation in unrelated patients.
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Registered trials
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