DNM1

Gene product: Dynein 1.

Protein function: a GTPase that has a critical role in synaptic vesicle recycling in the brain, particularly during postnatal development.

Phenotype: Developmental and epileptic encephalopathy 31 (Some may present with Infantile Epileptic Spasms Syndrome and Lennox-Gastaut Syndrome) (AD or AR) [1-2], and may be related to Febrile infection related epilepsy syndrome (FIRES) [3].

Mutation database: ClinVar.

Clinical and basic research: PubMed (PMID: 38009673 (Epileptic Disord. 2024)).

Medication reminder: It is often refractory to drugs, and the medication is mainly based on different epilepsy syndromes. If there are epileptic spasms, vigabatrin may be considered.

References:

1. De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.2014 Oct 2;95(4):360-70.
2. Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state.J Med Genet. 2022 Jun;59(6):549-553.
3. DNM1 encephalopathy: A new disease of vesicle fission.Neurology. 2017 Jul 25;89(4):385-394.