Pathogenic variants in the DNM1Lgene are distributed at each protein domain (GTPase, Middle, and GED). The neurological phenotype has been observed in all genotypes. Encephalopathy and developmental regression are prevalent in patients with pathogenic variants in the middle and GED domains. Peripheral neuropathy, ataxia, dystonia, and spasticity are frequently associated with the GTPase domain. Seizures, refractory status epilepticus and cerebral atrophy are more frequently associated with pathogenic variants in MD domain. Most pathogenic variants are missense variants, occurring de novo, causing the AD form of the condition. Rarer AR forms have been also identified, and they are usually associated with truncating variants.
DNM1L