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GENATLAS PHENOTYPE

last update : 10-05-2017

Symbol	EIEECA
Location	7q21.12
Name	encephalopathy with epilepsy and cortical atrophy
Other name(s)	epileptic encephalopathy, early infantile, 61
Corresponding gene	ADAM22
Other symbol(s)	EIEE61
Main clinical features	characterized by unusually rapidly progressing cortical atrophy starting at 3-4 months of age rapidly progressing cerebral atrophy, intractable seizures, and intellectual disability
Genetic determination	not applicable
Function/system disorder	neurology
Type	disease

Remark(s)

. mutations identified abolish the LGI1-ADAM22 ligand-receptor complex and are thus a likely primary cause of the proband's epilepsy syndrome (PMID: 27066583))