Dravet syndrome, an epileptic encephalopathy with a large correlation to febrile convulsions

  Dravet syndrome is a rare early-onset, persistent and severe epileptic G encephalopathy, with the majority of cases associated with defects in the ion channel gene SCN1A. Its prevalence is 1/40,000 to 1/20,000, accounting for 3% to 5% of epilepsy G cases before 1 year of age and 7% of epilepsy G cases up to 3 years of age. About 30% of Dravet syndrome has a family history of G or FS. The typical Dravet syndrome begins around 6 months after birth and has normal development before the onset of the disease. The first convulsive seizure is often FS, characterized by long-lasting, generalized or lateralized clonic febrile convulsions, followed by a variety of seizure G phenotypes, including myoclonus, atypical aphasia, and focal seizures. Epileptic G seizures often persist in the presence of thermal sensitivity and manifest as epileptic G persistence with progressive psychomotor developmental lags, gait abnormalities, and coordination deficits. EEG may be normal in the early stages and gradually develop generalized, focal or multifocal abnormalities.  Dravet’s syndrome is generally resistant to treatment and has a poor prognosis with a 15% mortality rate. Thus, the early differentiation of Dravet syndrome from FS is important for the management of the disease and prognosis. Some studies have proposed a risk score based on the importance of different clinical features in Dravet syndrome, and achieving a certain risk score predicts the possibility of Dravet syndrome, with specific clinical features and scores as follows: age of first onset of FS ≤7 months (2 points), number of convulsions ≥5 within 1 year of age (3 points), duration of convulsions >10 min (3 points), lateralized convulsions (3 points), partial seizures (1 point), myoclonic seizures (1 point), seizures induced by hot water (2 points), SCN1A missense mutation (1 point), SCN1A truncated mutation (2 points). The threshold for determining a high risk of developing Dravet syndrome is a clinical score ≥ 6. Analysis of the early clinical features of Dravet syndrome in SCNlA mutation-positive children has revealed that Dravet syndrome should be highly suspected when the child has 2 or more CFS features, and early screening for SCN1A mutations should be performed to guide the clinical selection of appropriate anti-epileptic G drugs.