| Symbol
| EIEE52
|
| Location
| 19q13.11
|
| Name
|
epileptic encephalopathy, early infantile, 52 |
| Other name(s)
|
Dravet syndrome
severe myoclonic epilepsy in infancy 3 |
| Corresponding gene
|
SCN1B
|
| Other symbol(s)
| SMEI3
|
| Main clinical features
|
severe infantile onset epilepsy syndrome with multiple seizure types, developmental slowing and poor outcome and is considered to be the most severe phenotype within the spectrum of generalized (genetic) epilepsy with febrile seizures (GEFS+)
infantile onset of refractory seizures with resultant delayed global neurologic development that causes intellectual disability and other persistent neurologic abnormalities |
| Genetic determination
| autosomal recessive |
| Function/system disorder
| neurology |
| Type
| disease
|