Ontology highlight
ABSTRACT:
SUBMITTER: Hitomi Y
PROVIDER: S-EPMC4527160 | biostudies-literature | 2013 Sep
REPOSITORIES: biostudies-literature
Annals of neurology 20130904 3
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 varian ...[more]