Title
Mutations in TNK2 in severe autosomal recessive infantile onset epilepsy Mutations in TNK2 in severe autosomal recessive infantile onset epilepsy
Author
Faculty/Department
Faculty of Pharmaceutical, Biomedical and Veterinary Sciences . Biomedical Sciences
Publication type
article
Publication
Boston, Mass. ,
Subject
Human medicine
Source (journal)
Annals of neurology. - Boston, Mass.
Volume/pages
74(2013) :3 , p. 496-501
ISSN
0364-5134
ISI
000325463100028
Carrier
E
Target language
English (eng)
Full text (Publishers DOI)
Affiliation
University of Antwerp
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. Ann Neurol 2013;74:496-501
Full text (open access)
https://repository.uantwerpen.be/docman/irua/fb68f1/6300.pdf
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