Publication | Open Access

Eyelid myoclonic status epilepticus: A rare phenotype in spinal muscular atrophy with progressive myoclonic epilepsy associated with ASAH1 gene mutation

Rare DiseasesProgressive Myoclonic EpilepsyOphthalmologyAsah1 Gene MutationMedicineGeneticsNeurological DisorderGenetic DisorderDegenerative DiseaseSpinal Muscular AtrophyNeurologyMotor DisorderNeuropathologyNeuromuscular PathologyNeuromusculoskeletal DisorderNeurogenetics