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