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Standards Ontologies Notations
developmental and epileptic encephalopathy 42

Summary
Synonym
  • DEE42
  • early infantile epileptic encephalopathy 42
Definition
A developmental and epileptic encephalopathy characterized by onset of seizures in the first hours or days of life and global developmental delay with severely impaired intellectual development that has_material_basis_in heterozygous mutation in the CACNA1A gene on chromosome 19p13.
Super Class
autosomal dominant disease developmental and epileptic encephalopathy
Disease Ontology
DOID:0080454
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
773 CACNA1A calcium voltage-gated channel subunit alpha1 A
Displaying 1 entry
Gene ID Gene Symbol Description Source
12286 Cacna1a calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
Displaying 1 entry
Gene ID Gene Symbol Description Source
25398 Cacna1a calcium voltage-gated channel subunit alpha1 A
Displaying 1 entry
Gene ID Gene Symbol Description Source
32158 cac cacophony
Displaying all 2 entries
Gene ID Gene Symbol Description Source
562059 cacna1aa calcium channel, voltage-dependent, P/Q type, alpha 1A subunit, a
569528 cacna1ab calcium channel, voltage-dependent, P/Q type, alpha 1A subunit, b
The Human Phenotype Ontology
Displaying entries 31 - 40 of 48 in total
HPO ID HPO Term
HP:0001290 Generalized hypotonia
HP:0002059 Cerebral atrophy
HP:0001263 Global developmental delay
HP:0001337 Tremor
HP:0011443 Abnormality of coordination
HP:0004305 Involuntary movements
HP:0012547 Abnormal involuntary eye movements
HP:0002509 Limb hypertonia
HP:0012444 Brain atrophy
HP:0100710 Impulsivity
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
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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: December 9, 2024