Article
Mutations in TNK2 in severe autosomal recessive infantile onset epilepsy.
Annals of neurology - 1 Sept 2013
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
Abstract excerpt
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...
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