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Charlotte Dravet (1936- )

She spent her entire career – from her very first year in pediatrics – trying to solve the questions of childhood epilepsies. Along the way, she worked with families and support groups to better diagnose, treat and care for children with epilepsy.

Dravet was born in France, and went to medical school at the Aix-Marseille University. She focused on pediatric neurology early in her pediatric residency, with a paper on tapetoretinal degeneration published in 1962.

Her 1965 medical school dissertation was titled “Encéphalopathie Épileptique de l'Enfant avec Pointe-onde lente diffuse (“petit mal variant”)” (Childhood epileptic encephalopathy with diffuse slow spike-waves (“petit mal variant”)) – the same title as her paper, a year later, with Henri Gastaut (1915-1995) and Joseph Roger (1918-2012), who would be her colleagues and co-authors for decades. This paper, published in Epilepsia, was the first to use electroencephalography to characterize the severe epilepsy of Lennox-Gastaut syndrome.

  

After graduation, she worked at the Neurobiology Department of Centre Saint-Paul in Marseille, created by Gastaut in 1960 as an establishment for the study and treatment of children with epilepsy, and renamed after Gastaut in 1998.  She became Associate Medical Director for the center in 2000. Along with Gastaut, Roger, psychiatrist René Soulayrol, and female neurologist Michelle Bureau, Dravet worked to further characterize various epilepsy syndromes, and to find novel treatments.

Dravet saw many children with severe, intractable epilepsy, given the diagnosis of Lennox-Gastaut syndrome – but she noticed that some of these children looked different. In 1978, she described a syndrome of severe myoclonic epilepsy of infancy (SMEI). This epilepsy usually began with a prolonged seizure, often triggered by fever, in a healthy child 4-8 months of age, and evolved to frequent, prolonged seizures, resistant to treatment with medication. After the publication of this paper, titled “Les épilepsies graves de l'enfant” (Severe epilepsies of childhood), an Italian neurologist, Bernardo Dalla Bernardina, recognized similar cases. Because of the variability of patient presentation, the International League Against Epilepsy decided in 1989 to use the eponym Dravet syndrome to classify this epilepsy.

In the early 2000s, genetic variations were identified in around 70% of children with the diagnosis of Dravet syndrome – specifically loss-of-function variations in the SCN1A gene, which encodes a subunit of a voltage-dependent sodium channel important for the generation of neuronal action potentials. Finally, the pathophysiology of Dravet syndrome was clearer – although many questions still remain around diagnosis and management of the disease.

 

Though a rare epilepsy, with an incidence of less than 1 per 40,000 people, Dravet syndrome entered public awareness in the 2010s, when Charlotte Figi became famous for taking a component of marijuana called cannabidiol (CBD) to treat intractable seizures associated with Dravet syndrome. The first placebo-controlled trial for cannabidiol in epilepsy was conducted in 2017, in 120 children and young adults with an established diagnosis of Dravet syndrome.

Dravet, Charlotte (2011). Dravet syndrome history. Developmental Medicine & Child Neurology. 53 (s2): 1–6.

Essay by Alison Christy, MD, PhD