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GENATLAS PHENOTYPE

last update : 05-06-2024

Symbol	DEE104
Location	17q21.2
Name	developmental and epileptic encephalopathy 104
Corresponding gene	ATP6V0A1
Main clinical features	developmental delay in the first few months of life and drug-resistant focal and generalized tonic-clonic seizures severely impaired intellectual development after a period of apparently normal development with delay or loss of milestones
Genetic determination	autosomal dominant
Function/system disorder	neurology
	mental retardation
Type	disease

Remark(s)

. biallelic mutations of ATP6V0A1 impair autophagic and lysosomal activities, contributing to neuronal cell death in developmental and epileptic encephalopathies (DEE) and early onset progressive myoclonus epilepsy (PME) (PMID: 37465367))