early infantile epileptic encephalopathy

Summary
Synonym
  • Early Infantile Epileptic Encephalopathy with Burst-Suppression
Definition
A neonatal period electroclinical syndrome that is characterized by tonic spasms and partial seizures.
Super Class
neonatal period electroclinical syndrome
Disease Ontology
DOID:0050709
Mondo Disease Ontology
ORDO
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
20273 Scn8a sodium channel, voltage-gated, type VIII, alpha
Displaying all 2 entries
Gene ID Gene Symbol Description Source
854303 IDH2 isocitrate dehydrogenase (NAD(+)) IDH2
855691 IDH1 isocitrate dehydrogenase (NAD(+)) IDH1
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
A0A0R5RP22 Sodium channel protein

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 7, 2025