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GENATLAS PHENOTYPE

last update : 16-09-2020

Symbol	EIEE81
Location	15q21.2
Name	epileptic encephalopathy, early infantile, 81
Other name(s)	Ohtahara syndrome
Corresponding gene	DMXL2
Main clinical features	neurodevelopmental disorder characterized by onset of severe refractory seizures soon after birth with little developmental progress with no eye contact and no motor or cognitive development other features may include facial dysmorphism, such as hypotonic facies and epicanthal folds, as well as sensorineural hearing loss and peripheral neuropathy brain imaging shows cerebral atrophy, impaired myelination, thin corpus callosum, and progressive leukoencephalopathy
Genetic determination	autosomal recessive
Function/system disorder	mental retardation
	neurology
Type	disease

Remark(s)

. impaired lysosomal function and autophagy caused by biallelic DMXL2 mutations affect neuronal development and synapse formation and result in Ohtahara syndrome with profound developmental impairment (PMID: 31840736))