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GENATLAS PHENOTYPE

last update : 15-04-2015

Symbol	EIEPN
Location	16q22.1
Name	infantile epileptic encephalopathy with peripheral neuropathy
Other name(s)	Epileptic encephalopathy, early infantile, 29
Corresponding gene	AARS
Other symbol(s)	EIEE29
Main clinical features	severe infantile epileptic encephalopathy with myoclonic seizures and extrapyramidal features, peripheral neuropathy based on absent peripheral reflexes, congenital vertical tali, and neuroradiologic features consistent with persistently deficient myelination microcephaly, mental retardation, blepharospasm, orobuccal dyskinesia, dystonia of limbs
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	disease

Remark(s)

mutations reduce aminoacylation activity (PMID: 25817015))