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GENATLAS PHENOTYPE

last update : 16-09-2020

Symbol	EIEE83
Location	2p15
Name	Epileptic encephalopathy, early infantile, 83
Corresponding gene	UGP2
Main clinical features	severe autosomal recessive neurodevelopmental disorder characterized by onset of frequent seizures in the first days to months of life that are usually refractory to medical treatment and are associated with significant EEG abnormalities, with profoundly impaired development, no motor or language skill acquisition, poor or absent visual tracking, and poor oromotor function necessitating tube feeding early death
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	disease

Remark(s)

. UGP2 homozygous variant leads to a loss of the shorter protein isoform in patient fibroblasts, the recurrent variant affecting the start codon of the shorter isoform of the essential gene UGP2 (PMID: 31820119))