作者: Yuki Hitomi , Erin L. Heinzen , Simona Donatello , Hans-Henrik Dahl , John A. Damiano
DOI: 10.1002/ANA.23934
关键词:
摘要: We identified a small family with autosomal recessive, infantile onset epilepsy and intellectual disability. Exome sequencing homozygous missense variant in the gene TNK2, encoding brain-expressed tyrosine kinase. Sequencing of coding region TNK2 110 patients similar phenotype failed to detect further homozygote or compound heterozygote mutations. Pathogenicity is supported by results our functional studies, which demonstrated that abolishes NEDD4 binding preventing its degradation after epidermal growth factor stimulation. Definitive proof pathogenicity will require confirmation unrelated patients.