NTRK2-related developmental and epileptic encephalopathy: Report of 5 new cases Journal Articles uri icon

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  • PURPOSE: This study aimed to describe the phenotype of five new cases of NTRK2-related developmental and epileptic encephalopathy (DEE). METHODS: The clinical features, EEG, neuroimaging and genetics were reviewed for cases with likely pathogenic and pathogenic NTRK2 variants and then summarized. RESULTS: Five cases of NTRK2-related DEE were identified. Four had a previously described recurrent variant in NTRK2 and one had a novel variant. The phenotype was characterized by early- onset seizures (infantile spasms, later evolving to multifocal seizures), global developmental delay, variable movement disorders, microcephaly and optic nerve hypoplasia. CONCLUSIONS: This series further expands our knowledge of the phenotype and genotype of NTRK2-related DEE.


  • Yoganathan, Sangeetha
  • Arunachal, Gautham
  • Gowda, Vykuntaraju K
  • Vinayan, Kollencheri Puthenveettil
  • Thomas, Maya
  • Whitney, Robyn
  • Jain, Puneet

publication date

  • November 2021