Christian M. Korff
Summary
Epileptic seizures concern approximately 5% of all children. For unknown reasons, some of these young patients show a tendency to present with prolonged epileptic seizures, which sometimes exceed 30 minutes (status epilepticus). In the majority of cases, status epilepticus is observed in infants, during a febrile illness. It can also be observed in well-delineated epileptic syndromes of infancy, like Dravet syndrome. This entity is associated with various mutations on the SCN1A gene, which encodes for the alpha-1 subunit of the sodium channel. Such mutations have also been described in relation with less severe forms of myoclonic epilepsies in infants, in certain patients with febrile seizures, in a form of familial generalized epilepsy (Generalized Epilepsy with Febrile Seizures Plus) of variable phenotypic expression, and in a form of encephalopathy linked with certain vaccinations. A good number of these patients share this tendency to present with prolonged seizures. Our study aims at knowing if the SCN1A gene plays a role in status epilepticus in children. On a long term, the objective is to contribute to an improvement in the management of status epilepticus in children, by adapting the treatment to the patient’s genotype.
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