Publication | Open Access

A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism

Epileptic EncephalopathyNeurogenomicsSplice Site VariantGenetic DisorderGeneticsDominant-negative MechanismMolecular GeneticsNeurologyNeuroscienceMolecular NeurobiologyDisease Gene IdentificationNeuropathologyMedicine