Features include always present findings: Brain shrinkage (cerebral atrophy), Microcephaly, Orofacial dyskinesia, and Limb dystonia and others; and common findings: Axial hypotonia, Short stature, Nystagmus, and Hip dislocation and others. 20 total HPO annotations.

AARS1 encodes alanyl-tRNA synthetase 1 (968 aa). Catalyzes the attachment of alanine to tRNA(Ala) in a two-step reaction: alanine is first activated by ATP to form Ala-AMP and then transferred to the acceptor end of tRNA(Ala). Highest expression in Cells EBV-transformed lymphocytes (212.7 TPM) and Cells Cultured fibroblasts (191.4 TPM).

Developmental and epileptic encephalopathy, 29 is caused by mutations in the AARS1 gene on chromosome 16.

AARS1 is classified as a druggable target (Enzyme category) with score 0.6.

90 pathogenic variants reported in AARS1 in ClinVar, including hotspot variant LRG_359p1:p.Arg329His (2-star review).

Genetic testing for AARS1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for developmental and epileptic encephalopathy, 29 has been reported in the published literature.

Phenotype severity distribution: 12 always present features, 6 common features.

No clinical trials have been registered for developmental and epileptic encephalopathy, 29.

104 publications have been identified in PubMed for developmental and epileptic encephalopathy, 29. Research spans Epidemiology / Natural History (38%), Review / Meta-Analysis (20%), and Basic Science / Preclinical (16%).