Features include always present findings: Seizure and Global developmental delay; and common findings: Absent speech, Status epilepticus, Feeding difficulties, and Generalized hypotonia and others. 18 total HPO annotations.

NTRK2 encodes neurotrophic receptor tyrosine kinase 2 (822 aa). Receptor tyrosine kinase involved in the development and the maturation of the central and the peripheral nervous systems through regulation of neuron survival, proliferation, migration, differentiation, and synapse formation and plasticity. Highest expression in Brain Anterior cingulate cortex BA24 (79.5 TPM) and Brain Frontal Cortex BA9 (75.0 TPM).

Developmental and epileptic encephalopathy, 58 is associated with mutations in the NTRK2 gene on chromosome 9.

The NTRK2 protein participates in Signaling by NTRK2 (TRKB), NTRK2 activates RAC1, and Activated NTRK2 signals through CDK5 pathways.

NTRK2 is classified as a druggable target (Clinically Actionable, Druggable Genome, Enzyme, Kinase, and Tyrosine Kinase categories) with score 1.3.

Genetic testing for NTRK2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for developmental and epileptic encephalopathy, 58 has been reported in the published literature.

Phenotype severity distribution: 2 always present features, 7 common features.

No clinical trials have been registered for developmental and epileptic encephalopathy, 58.

88 publications have been identified in PubMed for developmental and epileptic encephalopathy, 58. Research spans Epidemiology / Natural History (35%), Review / Meta-Analysis (25%), and Basic Science / Preclinical (10%).