Mutations in TNK2 in severe autosomal recessive infantile onset epilepsy.

Published

Journal Article

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.

Full Text

Cited Authors

  • Hitomi, Y; Heinzen, EL; Donatello, S; Dahl, H-H; Damiano, JA; McMahon, JM; Berkovic, SF; Scheffer, IE; Legros, B; Rai, M; Weckhuysen, S; Suls, A; De Jonghe, P; Pandolfo, M; Goldstein, DB; Van Bogaert, P; Depondt, C

Published Date

  • September 4, 2013

Published In

Volume / Issue

  • 74 / 3

Start / End Page

  • 496 - 501

PubMed ID

  • 23686771

Pubmed Central ID

  • 23686771

Electronic International Standard Serial Number (EISSN)

  • 1531-8249

International Standard Serial Number (ISSN)

  • 0364-5134

Digital Object Identifier (DOI)

  • 10.1002/ana.23934

Language

  • eng