You are invited to participate in a retrospective multicenter study: Delineating the Molecular and Clinical Spectrum of Epilepsy-Dyskinesia Syndromes in Children (The Epilepsy-Dyskinesia Spectrum Study). 

Enrollment criteria: Any patient with pathogenic or likely-pathogenic variants in one of the genes below and at least one childhood-onset movement disorder.

AARS2

CSTB

GABRB2

KCNA2

NARS2

PIGP

SETBP1

SZT2

ALG13

DARS2

GABRB3

KCNB1

NHLRC1

PIGQ

SETD5

TARS2

AP3B2

DLAT

GABRG2

KCNC1

PCDH12

PIGS

SLC13A5

TBC1D24

AP4B1

DLD

GNAO1

KCNMA1

PCDH19

PLCB1

SLC1A2

TBL1WL1

AP4E1

DNM1

GRIA2

KCNQ2

PDE10A

POLG

SLC25A22

UBA5

AP4M1

EARS2

GRIA4

KCNQ3

PDE2

PRRT2

SLC2A1

UBE3A

AP4S1

EPG5

GRIN1

KCNT1

PDHA1

PURA

SMC1A

VAMP2

ARX

EPM2A

GRIN2A

LARS2

PDHB

RHOBTB2

SNX14

VARS2

ATP1A3

FARS2

GRIN2B

MECP2

PDHX

SCN1A

SPTAN1

WARS2

CACNA1A

FOXG1

GRIN2D

MEF2C

PDK3

SCN1B

ST3GAL3

WDR45

CACNA1E

FRRS1L

HARS2

MTND5

PDP1

SCN2A

STXBP1

WWOX

CACNA2D2

GABRA1

HNRNPU

MTTK

PIGA

SCN8A

SYNGAP1

YIF1B

CDKL5

GABRA2

IQSEC2

MTTL1

PIGN

SCN9A

SYNJ1

YWHAG

All contributing investigators will be recognized as collaborators on any publications that result from this study.

This study is approved by the Institutional Review Board at Boston Children's Hospital (IRB-P00044666). Investigators should make sure to adhere to their institution's policies for sharing de-identified information. If additional local IRB approval is required for sharing data, a copy of the IRB approval letter at Boston Children's Hospital can be provided.

You can save and return to an entry from the button at the bottom of the form, but each form is unique to each patient, so you will need to save the link to that specific form.  

If you have any questions, please do not hesitate to contact us at movementdisorders@childrens.harvard.edu.

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