Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain-expressed sodium channelopathies - PubMed
5 hours ago
- #NDEEMA
- #neonatal encephalopathy
- #sodium channelopathy
- NDEEMA is characterized by neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis, representing a severe phenotype in sodium channelopathies.
- The study identifies NDEEMA across SCN1A, SCN2A, SCN3A, and SCN8A brain-expressed sodium channel genes, with gain-of-function variants at conserved positions.
- Clinical findings in liveborn individuals include high rates of neonatal epilepsy with tonic seizures or apnea, and common movement disorders like myoclonus, dystonia, and tremor.
- Sodium channel blockers reduced seizures in 68% of treated cases, highlighting potential therapeutic benefits, but mortality occurred in some, including intrauterine deaths.
- Functional studies confirm that many NDEEMA-associated variants exhibit gain-of-function effects, supporting the shared pathophysiological mechanism across these channelopathies.