Mutations in TNK2 in severe autosomal recessive infantile onset epilepsy.

@article{Hitomi2013MutationsIT,
  title={Mutations in TNK2 in severe autosomal recessive infantile onset epilepsy.},
  author={Yuki Hitomi and Erin L. Heinzen and Simona Donatello and H. H. M. Dahl and John Anthony Damiano and Jacinta M Mcmahon and Samuel F. Berkovic and Ingrid E. Scheffer and Benjamin Legros and Myriam Rai and Sarah Weckhuysen and Arvid Suls and Peter de Jonghe and Massimo Pandolfo and David K. Goldstein and Patrick van Bogaert and Chantal Depondt},
  journal={Annals of neurology},
  year={2013},
  volume={74 3},
  pages={496-501}
}
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… CONTINUE READING