Publication
Title
Mutations in TNK2 in severe autosomal recessive infantile onset epilepsy
Author
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
Language
English
Source (journal)
Annals of neurology. - Boston, Mass.
Publication
Boston, Mass. : 2013
ISSN
0364-5134
Volume/pages
74:3(2013), p. 496-501
ISI
000325463100028
Full text (Publisher's DOI)
Full text (open access)
UAntwerpen
Faculty/Department
Research group
Publication type
Subject
Affiliation
Publications with a UAntwerp address
External links
Web of Science
Record
Identification
Creation 16.12.2013
Last edited 11.06.2017
To cite this reference