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Epileptic encephalopathy, early infantile, 13; EIEE13

Disease ID:322
Name:Epileptic encephalopathy, early infantile, 13; EIEE13
Associated with:1 target
Synonyms
Early infantile epileptic encephalopathy | Infantile epileptic encephalopathy
Database Links
Disease Ontology: DOID:2481
OMIM: 614558
Orphanet: ORPHA1934

Targets

Nav1.6
Role:  Increased persistent current, incomplete inactivation, depolarizing shift in the voltage-dependence of steady-state fast inactivation
References:  1
Mutations:  Nav1.6 is associated with 1 mutation. Click here for details

Ligands

No ligand related data available for Epileptic encephalopathy, early infantile, 13; EIEE13

References

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1. Veeramah KR, O'Brien JE, Meisler MH, Cheng X, Dib-Hajj SD, Waxman SG, Talwar D, Girirajan S, Eichler EE, Restifo LL et al.. (2012) De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP. Am. J. Hum. Genet., 90 (3): 502-10. [PMID:22365152]