NX GEN SEQ, DRAVET'S SYNDROME & EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY
Dravet's Syndrome is caused by mutation in SCN1A gene. It is an autosomal dominant inheritance presenting with febrile seizures at median 1 year of age which may persist >6 years after which the seizures become variable and are not associated with fever. Early infantile epileptic encephalopathy (EIEE) is a severe form of early onset epilepsy characterized by severe EEG abnormalities and resistance to standard anti-epileptic treatment. It leads to developmental delay & intellectual disability.
Parameter(s) covered : 1
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Parameters
- Nx GEN SEQ