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developmental and epileptic encephalopathy 98

Summary

Synonym

DEE98
early infantile epileptic encephalopathy 98

Definition

A developmental and epileptic encephalopathy characterized by onset of seizures in the first decade associated with variable global developmental delay that has_material_basis_in heterozygous mutation in the ATP1A2 gene on chromosome 1q23.

Super Class

autosomal dominant disease developmental and epileptic encephalopathy

External Links

Disease Ontology: DOID:0070384

Related Genes

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
477	ATP1A2	ATPase Na+/K+ transporting subunit alpha 2	Alliance of Genome Resources

Related Glycoprotein

Displaying 1 entry
UniProt ID	Protein Name	Source
P50993	Sodium/potassium-transporting ATPase subunit alpha-2	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **1 - 10** of 48 in total

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HPO ID	HPO Term
HP:0000494	Downslanted palpebral fissures
HP:0000252	Microcephaly
HP:0000348	High forehead
HP:0000504	Abnormality of vision
HP:0000508	Ptosis
HP:0000546	Retinal degeneration
HP:0000639	Nystagmus
HP:0000708	Atypical behavior
HP:0000717	Autism
HP:0000648	Optic atrophy

Displaying **all 5** entries
Gene ID	Gene Symbol	Description
781	CACNA2D1	calcium voltage-gated channel auxiliary subunit alpha2delta 1
8867	SYNJ1	synaptojanin 1
523	ATP6V1A	ATPase H+ transporting V1 subunit A
79947	DHDDS	dehydrodolichyl diphosphate synthase subunit
1759	DNM1	dynamin 1