Dravet syndrome: definition

Dravet syndrome is a rare genetic disorder, diagnosed in one child in 20,000 to 40,000, and is a condition that causes encephalopathy. The disease entity was described by Dr Dravet in the 1970s under the name Serve Myoclonic Epilepsy of Infancy, known as SEI. Dravet syndrome was thus known as severe myoclonic epilepsy of infancy.

Dravet syndrome: causes

For the majority of patients, a mutation within the SCN1A gene, which under normal conditions is responsible for coding for the sodium channel, is responsible for causing the disease. In addition to the mutation within SCN1A, cases are known to be caused by mutations in other genes, viz: SCN9A, SCN2B, PCDH19, GABRG2, GABRA1 and STXBP1.

Darvet syndrome in newborns, photo: panthermedia

Dravet syndrome: symptoms

Epileptic symptoms, caused by the encephalopathy, usually appear during the first year of life. In addition, children affected by this disease are diagnosed with motor and behavioural delays, problems with body balance, problems in speech development, sometimes sleep problems, frequent and prolonged infections. Other symptoms that the disease produces are: sensory integration disorders and problems with the functioning of the autonomic nervous system. Children with Dravet syndrome are more likely to have SUDEP syndrome, or sudden unexplained death in epilepsy. Epileptic seizures last up to about 30 minutes and are difficult to control even with antiepileptic drugs. A seizure can be triggered by fever, illness, a warm bath or even a high external temperature.

Dravet syndrome: diagnosis

An extensive clinical history allows a correct diagnosis to be made. The child's cognitive and motor development, the occurrence of epileptic seizures with or without fever before the first year of life, the number of seizures lasting more than 10 minutes and the body's response to antiepileptic treatment with first-line antiepileptic drugs are verified.

Dravet syndrome: treatment options

The first-line drugs are clobazam and valproic acid. If these are ineffective, stiripentol and topiramate are used. As of 2020, the US Food and Drug Administration (FDA) has approved fenfluramine to reduce the frequency of seizures in patients with the syndrome. The treatment is available for children aged two years and older. In addition, drugs such as oxcarbazepine, carbamazepine, phenytoin and lamotrigine should not be used in patients as they may contribute to increased seizure frequency. As of 2018, the FDA has approved the use of cannabidiol (from cannabis) for the treatment of epilepsy in children over two years of age. It should be noted that there is no possibility of a complete cure for a patient diagnosed with the mutation.

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Dravet syndrome - symptoms, treatment, prognosis

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