Developmental and epileptic encephalopathy 119

MONDO:1060177

A developmental and epileptic encephalopathy caused by the variants in the RNU2-2 gene, in which most reported variants are de novo. It is characterized by global developmental delay, hypotonia, impaired intellectual development, microcephaly, autistic behavior, and characteristically complex seizures.

Also known as: DEE119, RNU2-2 developmental and epileptic encephalopathy, RNU2-2 syndrome, developmental and epileptic encephalopathy 119

17 clinical trials for this condition and its sub-types, 0 tagged with Developmental and epileptic encephalopathy 119 itself.

Follow this condition to get notified about new trials

Where it sits in the disease tree

Browse by category →

Part of

↑ Genetic developmental and epileptic encephalopathy (83)

Including sub-types (17) Tagged with Developmental and epileptic encephalopathy 119 (0)

Trials to join now! 5 Not yet finished but already full! 6 Completed 5 Terminated 1

New drug shows promise for Tough-to-Treat seizures in kids

Disease control Stopped early

This study looked at the long-term safety of soticlestat, an experimental drug, in children and adults with severe forms of epilepsy like Dravet syndrome and Lennox-Gastaut syndrome. Participants took soticlestat twice a day along with their usual seizure medicines. The study was…

Phase 2 • Sponsor: Takeda • Aim: Disease control

Last updated Sep 06, 2026 00:00 UTC

Developmental and epileptic encephalopathy 119

Where it sits in the disease tree

New drug shows promise for Tough-to-Treat seizures in kids