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NCT06585605

A Retrospective Survey-based Multicenter Study to Delineate the Molecular and Phenotypic Spectrum of Epilepsy-dyskinesia Syndromes

Recruiting
Not specifiedAges 0–18Observational
Boston Children's Hospital
~500 participants
Updated 2026-03-18 on ClinicalTrials.gov

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Creation of a Shared Clinical Database
Measured over 1 year
+3 more outcomes measured

Conditions

Epilepsy in Children
Dyskinesias
Movement Disorders in Children
Neurologic Disorder
Chorea
Myoclonus
Ataxia
Epilepsy
Dystonia Disorder
Movement Disorders

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Epilepsy-Dyskinesia SyndromeMovement DisorderSeizure DisorderAARS2 GeneADAPTOR-RELATED PROTEIN COMPLEX 3, BETA-2 SUBUNITADAPTOR-RELATED PROTEIN COMPLEX 4, EPSILON-1 SUBUNITADAPTOR-RELATED PROTEIN COMPLEX 4, SIGMA-1 SUBUNITALG13 GeneAP4B1 GeneAP4M1 GeneARX GeneASPARAGINYL-tRNA SYNTHETASE 2ATP1A3 GeneCACNA1E GeneCALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-2/DELTA SUBUNIT 2CDKL5 GeneCOMPLEX I, SUBUNIT ND5CSTB GeneDARS2 GeneDIHYDROLIPOAMIDE DEHYDROGENASEDIHYDROLIPOAMIDE S-ACETYLTRANSFERASEDNM1 GeneEPG5 GeneFERRIC CHELATE REDUCTASE 1-LIKEForkhead Box Protein G1GABRA1 GeneGAMMA-AMINOBUTYRIC ACID RECEPTOR, ALPHA-2GAMMA-AMINOBUTYRIC ACID RECEPTOR, BETA-2GAMMA-AMINOBUTYRIC ACID RECEPTOR, BETA-3GAMMA-AMINOBUTYRIC ACID RECEPTOR, GAMMA-2GLUTAMATE RECEPTOR, IONOTROPIC, AMPA 4GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 1GLUTAMYL-tRNA SYNTHETASE 2, MITOCHONDRIALGNAO1 GeneGRIA2 GeneGRIN2A GeneGRIN2B GeneGRIN2D GeneHETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN UHISTIDYL-tRNA SYNTHETASE 2IQSEC2 GeneKCNA2 GeneKCNB1 GeneKCNC1 GeneKCNMA1 GeneKCNQ2 GeneKCNT1 GeneLEUCYL-tRNA SYNTHETASE 2MECP2 GeneMEF2C GeneNa(+)/Citrate CotransporterNHL REPEAT-CONTAINING PROTEIN 1PCDH19 GenePDE2A GenePDHX GenePDK3 GenePHENYLALANYL-tRNA SYNTHETASE 2, MITOCHONDRIALPHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS P PROTEINPHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS Q PROTEINPHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS S PROTEINPHOSPHODIESTERASE 10APIGN GenePOLG GenePOTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 3PROTOCADHERIN 12PRRT2 GenePURA GenePYRUVATE DEHYDROGENASE E1, SUBUNIT ALPHA-1PYRUVATE DEHYDROGENASE E1, SUBUNIT BETARHO-RELATED BTB DOMAIN-CONTAINING PROTEIN 2SCN1A GeneSCN2A GeneSCN8A GeneSCN9A GeneSLC1A2 GeneSLC2A1 GeneSMN1 wt AlleleSNP14SODIUM VOLTAGE-GATED CHANNEL, BETA SUBUNIT 1SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, GLUTAMATE), MEMBER 22SPECTRIN, ALPHA, NONERYTHROCYTIC 1ST3 BETA-GALACTOSIDE ALPHA-2,3-SIALYLTRANSFERASE 3STXBP1 GeneSYNGAP1 GeneTBC1 DOMAIN FAMILY, MEMBER 24TBL1WL1THREONYL-tRNA SYNTHETASE 2TK2 wt AlleleTRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1TYROSINE 3-MONOOXYGENASE/TRYPTOPHAN 5-MONOOXYGENASE ACTIVATION PROTEIN, GAMMA ISOFORMUBA5 GeneUbiquitin-Protein Ligase E3AVALYL-tRNA SYNTHETASE 2Vesicle-Associated Membrane Protein 2Voltage-Dependent P/Q-Type Calcium Channel Subunit Alpha-1AWARS2 GeneWDOXWDR45 GeneYIP1-INTERACTING FACTOR HOMOLOG B, MEMBRANE-TRAFFICKING PROTEIN

Where it's being run

1 sites across 1 states
Massachusetts1

Who to contact

Darius Ebrahimi-Fakhari, MD, PhD.
[email protected]
617-355-0097
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Eligibility criteria

Inclusion

Children between 0 - 18 years of age with a movement disorder and a pathogenic or likely pathogenic variant in one of the genes of interest:

Exclusion

Not having such diagnosis and/or not presenting a movement disorder.

What this trial measures

  • Creation of a Shared Clinical Database1 year

    The primary endpoint of this multi-center study will be the creation of the Epilepsy-Dyskinesia Study and the enrollment of 350 individuals in a shared database.

  • Understanding of Disease Spectrum1 year

    To comprehensively understand the spectrum and association of movement and seizure disorders on both clinical and molecular levels.

  • Assess the Impact of Movement Disorders on Health-Related Quality of Life1 year

    To assess the impact of movement disorders on health-related quality of life specifically within the context of epilepsy-dyskinesia syndromes.

  • Investigate the Efficacy of Symptomatic Treatments1 year

    Investigate the efficacy of symptomatic treatments in addressing both seizure and movement disorders, aiming to identify shared therapeutic strategies.