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GENATLAS PHENOTYPE

last update : 12-10-2016

Symbol	EIEE44
Location	3q22.1
Name	epileptic encephalopathy, early infantile, 44
Corresponding gene	UBA5
Main clinical features	early infantile-onset encephalopathy; in the first weeks or months of life irritability, jitteriness, back arching, and poor eye contact; additional features included severely delayed psychomotor development, truncal hypotonia, spasticity, dystonic or athetoid movements, postnatal microcephaly, and short stature; intellectual deficiency, microcephaly, movement disorders, and/or early-onset intractable epilepsy brain imaging showed variable abnormalities, including thin corpus callosum, cortical atrophy, cerebellar atrophy, and white matter changes
Genetic determination	autosomal recessive
Function/system disorder	neurology
	mental retardation
Type	disease

Remark(s)

. reduced UBA5 activity leading to impaired UFM1 system underlies this syndrome (PMID: 27545674)) UBA5 mutations is a pathophysiological cause for early-onset encephalopathies due to abnormal protein ufmylation (PMID:27545681))