Mutations in TNK2 in severe autosomal recessive infantile-onset epilepsy

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...

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Pubblicato in:Ann Neurol
Autori principali: Hitomi, Yuki, Heinzen, Erin L., Donatello, Simona, Dahl, Hans-Henrik, Damiano, John A., McMahon, Jacinta M., Berkovic, Samuel F., Scheffer, Ingrid E., Legros, Benjamin, Rai, Myriam, Weckhuysen, Sarah, Suls, Arvid, De Jonghe, Peter, Pandolfo, Massimo, Goldstein, David B., Van Bogaert, Patrick, Depondt, Chantal
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2013
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4527160/
https://ncbi.nlm.nih.gov/pubmed/23686771
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.23934
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