Features include always present findings: Axial hypotonia, Absent speech, Seizure, and Intellectual disability; and very common findings: Inability to walk and Feeding difficulties in infancy. 16 total HPO annotations.

ACTL6B encodes actin like 6B (426 aa). Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Highest expression in Brain Cerebellar Hemisphere (129.5 TPM) and Brain Cerebellum (122.0 TPM).

Developmental and epileptic encephalopathy, 76 is associated with mutations in the ACTL6B gene on chromosome 7.

The ACTL6B protein participates in Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF) and Formation of neural BAF (nBAF) pathways.

ACTL6B is classified as a druggable target with score 0.0.

47 pathogenic variants reported in ACTL6B in ClinVar, including hotspot variants 635103 and NP_057272.1:p.Gly343Arg (2-star review).

Genetic testing for ACTL6B is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for developmental and epileptic encephalopathy, 76 has been reported in the published literature.

Phenotype severity distribution: 4 always present features, 2 very common features, 4 common features.

No clinical trials have been registered for developmental and epileptic encephalopathy, 76.

52 publications have been identified in PubMed for developmental and epileptic encephalopathy, 76. Research spans Epidemiology / Natural History (33%), Clinical Trial Publication (22%), and Review / Meta-Analysis (14%).