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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

Mondo Disease Ontology

MONDO:0030472

OMIM

619605

Related Genes

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

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
98660	Atp1a2	ATPase, Na+/K+ transporting, alpha 2 polypeptide	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
24212	Atp1a2	ATPase Na+/K+ transporting subunit alpha 2	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **21 - 30** of 48 in total

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HPO ID	HPO Term
HP:0001290	Generalized hypotonia
HP:0001298	Encephalopathy
HP:0001315	Reduced tendon reflexes
HP:0001336	Myoclonus
HP:0001337	Tremor
HP:0001508	Failure to thrive
HP:0001558	Decreased fetal movement
HP:0002020	Gastroesophageal reflux
HP:0002059	Cerebral atrophy
HP:0002063	Rigidity

Displaying **all 4** entries
Gene ID	Gene Symbol	Description
523	ATP6V1A	ATPase H+ transporting V1 subunit A
781	CACNA2D1	calcium voltage-gated channel auxiliary subunit alpha2delta 1
79947	DHDDS	dehydrodolichyl diphosphate synthase subunit
8867	SYNJ1	synaptojanin 1