GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version
Severe Myoclonic Epilepsy In Infancy  
Disease Aliases (23)

Dee6

Developmental and epileptic encephalopathy 6

Drvt

Ds

Dravet syndromes

Dravet syndrome

Eiee6

Epileptic encephalopathy, early infantile, 6

Epilepsy, myoclonic, infantile, severe

Epileptic encephalopathy, early infantile, 6 (dravet syndrome)

Gabrg2-related dravet syndrome

Infantile severe myoclonic epilepsy

Myoclonic epilepsy, infantile, severe

Myoclonic epilepsy, severe infantile

Myoclonic epilepsy, severe, of infancy

Scn9a-related dravet syndrome

Sme

Smei

Severe infantile myoclonic epilepsy

Severe myoclonic epilepsy of infancy

Severe myoclonic epilepsy, infantile

Severe myoclonic epilepsy in infancy

Severe myoclonus epilepsy of infancy

Associated Genes (7)
 

NCBI-RefSeq:  SCN1B   (Sodium voltage-gated channel beta subunit 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  SCN2A   (Sodium voltage-gated channel alpha subunit 2)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  SCN9A   (Sodium voltage-gated channel alpha subunit 9)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  PCDH19   (Protocadherin 19)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  SCN1A   (Sodium voltage-gated channel alpha subunit 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  GABRG2   (Gamma-aminobutyric acid type A receptor subunit gamma2)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  GABRA1   (Gamma-aminobutyric acid type A receptor subunit alpha1)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Severe myoclonic epilepsy in infancy OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations