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GENATLAS PHENOTYPE

last update : 18-12-2018

Symbol	EIEE62
Location	2q24.3
Name	epileptic encephalopathy, early infantile, 62
Corresponding gene	SCN3A
Main clinical features	refractory epilepsy beginning in the first weeks or months of life resulting in severe to profound intellectual disability and global neurologic impairment, microcephaly, hypotonia, spastic tetraparesis, and cortical blindness multiple seizure types, including tonic, clonic, and myoclonic, and EEG showed multifocal sharp waves and spikes, intermittent slowing, and hypsarrhythmia brain imaging showed polymicrogyria, thin corpus callosum
Genetic determination	autosomal dominant
Function/system disorder	neurology
	osteo-articular
Type	disease

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