Epileptic encephalopathy

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Information
Disease name
Epileptic encephalopathy
Disease ID
Description
Disease area statistics
Chromosome band
Gene symbol Chromosome Start Stop The number of variant
OTUD7A 15 31,475,398 31,870,673 8
PPP3CA 4 101,023,418 101,347,526 2
Annotation
Genes Mutation Description Source Links
NCT ID Status Phase Summary Start date Completion date
NCT03936777 Active, not recruiting Phase 3 A Study to Investigate the Long-Term Safety of ZX008 (Fenfluramine Hydrochloride) Oral Solution in Children and Adults With Epileptic Encephalopathy Including Dravet Syndrome and Lennox-Gastaut Syndrome April 22, 2019 June 28, 2024
NCT03024827 Active, not recruiting Phase 1 Cannabidiol in Children With Refractory Epileptic Encephalopathy April 26, 2017 December 31, 2023
NCT04625101 Completed Phase 2 Efficacy, Safety, Tolerability, and Pharmacokinetics of NBI-827104 in Pediatric Subjects With Epileptic Encephalopathy With Continuous Spike-and-Wave During Sleep April 26, 2021 October 11, 2022
NCT05301894 Enrolling by invitation Phase 2 Extension Study to Evaluate NBI-827104 in Pediatric Participants With Epileptic Encephalopathy With Continuous Spike-and-Wave During Sleep June 7, 2022 February 2025
NCT01858285 Recruiting Genetics of Epilepsy and Related Disorders November 2010 December 2030
NCT03934268 Recruiting A Cohort Study on the Prognosis of Neonatal KCNQ2 Gene-associated Epileptic Encephalopathy January 1, 2017 December 2023
NCT04802135 Recruiting Creation of a Register of Patients With Neonatal-onset Epileptic Encephalopathy March 6, 2021 September 2025
NCT05722990 Recruiting Genetic Investigations in Children With Developmental and Epileptic Encephalopathies in Ho Chi Minh City, Vietnam March 16, 2022 December 31, 2025
NCT03955432 Terminated N/A Long-term Cardiac Monitoring in Epilepsy March 19, 2019 January 3, 2023
NCT02603991 Unknown status Prospective Cohort Study on the Efficacy of Vagus Nerve Stimulation for Children and Adolescents With Epilepsy(PVNS-CAE) June 2016 October 2017
NCT04496310 Unknown status N/A Tele-epic (Telemedicine for Epilepsy Care) July 9, 2020 July 8, 2023
HPO Human Phenotype ID (Human Phenotype Ontology)
HP:0200134
MedGen concept unique identifier (MedGen Concept name)
C0543888
MedGen unique identifier (MedGen Concept name)
452596