In a nutshell:
• New developmental disorder discovered: Variants of the UNC13A gene cause severe neurological impairments.

• Three forms of developmental disorder identified: Depending on the gene variant, affected individuals exhibit different symptoms of diverse severity and have different underlying molecular mechanisms.

• Possible approach for therapies: In the future, antisense oligonucleotide therapies that exclusively suppress the production of disease-causing UNC13A protein copies could alleviate the symptoms in two forms of the disease.