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developmental and epileptic encephalopathy 13

Summary

Synonym

DEE13
early infantile epileptic encephalopathy 13

Definition

A developmental and epileptic encephalopathy characterized by onset of intractable seizures in the first year of life with impaired development or developmental regression after seizure onset that has_material_basis_in heterozygous mutation in the SCN8A gene on chromosome 12q13.

Super Class

autosomal dominant disease developmental and epileptic encephalopathy

External Links

Disease Ontology

DOID:0080445

Mondo Disease Ontology

MONDO:0013801

OMIM

614558

Related Genes

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
6334	SCN8A	sodium voltage-gated channel alpha subunit 8	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
20273	Scn8a	sodium channel, voltage-gated, type VIII, alpha	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
29710	Scn8a	sodium voltage-gated channel alpha subunit 8	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
32619	para	paralytic	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:0000648	Optic atrophy
HP:0000504	Abnormality of vision
HP:0000750	Delayed speech and language development
HP:0000348	High forehead
HP:0000708	Atypical behavior
HP:0001250	Seizure
HP:0000546	Retinal degeneration
HP:0000252	Microcephaly
HP:0000668	Hypodontia
HP:0001249	Intellectual disability

Displaying **all 5** entries
Gene ID	Gene Symbol	Description
1759	DNM1	dynamin 1
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