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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 **41 - 48** of 48 in total

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HPO ID	HPO Term
HP:0007018	Attention deficit hyperactivity disorder
HP:0002421	Poor head control
HP:0010844	EEG with multifocal slow activity
HP:0012447	Abnormal myelination
HP:0002521	Hypsarrhythmia
HP:0100660	Dyskinesia
HP:0004322	Short stature
HP:0011968	Feeding difficulties

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