Charlotte Dravet (1936 – ) French paediatric psychiatrist and epileptologist.
Charlotte Dravet has made significant contributions to understanding the electrophysiological causes of paediatric epilepsy syndromes and also continues to advocate for improved support of these children.
She is best known for identifying and describing Dravet Syndrome (Early Infantile Epileptic Encephalopathy-6) in 1978.
- Born July 14, 1936
- 1961 – Graduated medicine, Aix-Marseille University
- 1962–1965 Resident training in pediatrics
- 1965 – MD, These: Encéphalopathie Épileptique de l’Enfant avec Pointe-onde lente diffuse (“petit mal variant”)
- 1965-1988 Pediatric resident physician, living in and working at the Centre Saint Paul in Marseille
- 1989-2000 Associate Medical Director of the Centre Saint Paul, Marseille
- 1997-1999 President of the French League Against Epilepsy (LFCE)
- 2011 – Chevalier de l’Ordre de la Légion d’honneur
- 2017 – Lifetime Achievement Award from the International League Against Epilepsy for her tireless work and dedication to the epilepsy mission, including her support to the many lay associations which advocate for better care for children with epilepsy.
Dravet Syndrome (1978)
Dravet Syndrome: clinical term for early onset epileptic encephalopathy (EIEE) characterized by generalized tonic, clonic, and tonic-clonic seizures that are initially induced by fever and begin during the first year of life. [aka Severe Myoclonic epilepsy of infancy (SMEI), Early Infantile Epileptic Encephalopathy-6 (EIEE6), OMIM 607208]
Mutations occur in the SCN1A gene in around 70-80% of patients and are not normally associated with familial inheritance, however family history of a febrile seizure is part of diagnostic criteria. It is incredibly rare. Symptom onset is associated with raised body temperature, with triggers including vaccination, hot baths and fever.
Affected children show initially normal development, which becomes delayed following onset of seizure activity, which is not limited to one form. Progression of the disease leads to motor symptoms, including ataxia and dysarthria, cognitive impairment and visual perception difficulties. Behaviour changes are also often seen, such as aggression.
Treatment is challenging, due to seizures not being responsive to anti-epileptic therapy and there are high childhood mortality rates. Due to the pathophysiology of the disease, common epileptic medications targeting the sodium channel may also worsen symptoms. Brain and nerve stimulation therapies have been found to be useful in some cases.
1978 Initially described by Dravet in 1978, as Severe Myoclonic Epilepsy of Infancy (SMEI) to distinguish it from the Lennox-Gastaut syndrome (LGS).
1989 Name change to Dravet syndrome as part of a report by ILAE including the classification of 8 epileptic encephalopathy syndromes
Febrile and afebrile generalized and unilateral, clonic or tonic–clonic, seizures, that occur in the first year of life in an otherwise normal infant and are later associated with myoclonus, atypical absences, and partial seizures. All seizure types are resistant to antiepileptic drugs (AEDs). Developmental delay becomes apparent within the second year of life and is followed by definite cognitive impairment and personality disordersCommission on Classification and Terminology ILAE; 1989
2001 Mutation in the SCN1A gene was found in the majority of patients, leading it to be termed an epileptic encephalopathy.
- Dravet C. Encéphalopathie Épileptique de l’Enfant avec Pointe-onde lente diffuse (“petit mal variant”). Thesis, Marseille 1965
- Dravet C, Jallon P. Les épilepsies graves de l’enfant. 1978
- Dravet C. L’Enfant épileptique, le comprendre et l’aider. 1987
- Dravet C. Severe myoclonic epilepsy in infants and its related syndromes. Epilepsia. 2000;41 Suppl 9:7.
- Dravet C. Dialogue Médecin-Malade : Comprendre l’épilepsie : Notions élémentaires sur l’épilepsie et les épilepsies. 2005
- Dravet C, Bureau M, Dalla Bernardina B, Guerrini R. Severe myoclonic epilepsy in infancy (Dravet syndrome) 30 years later. Epilepsia. 2011 Apr;52 Suppl 2:1-2.
- Dravet C. The core Dravet syndrome phenotype. Epilepsia. 2011; 52 Suppl 2:3-9.
- Dravet C. Dravet syndrome history. Dev Med Child Neurol. 2011; 53 Suppl 2:1-6.
- Dravet C, Guerrini. Dravet Syndrome. Topics in Epilepsy. 2011
- Dravet C, Oguni H. Dravet syndrome (severe myoclonic epilepsy in infancy). Handb Clin Neurol. 2013;111:627-33.
- Dravet C. Terminology and prognosis of Dravet syndrome. Epilepsia. 2014 Jun;55(6):942-3.
- Charlotte Dravet. International League against Epilepsy (ILAE). 2017
- Bibliography. Dravet, Ch (Charlotte). WorldCat Identities
- History and Diagnosis of Dravet Syndrome. dravet-syndrome.com
- Dravet Syndrome #607208. OMIM
- Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy. Epilepsia. 1989 Jul-Aug;30(4):389-99.
- Anwar A, Saleem S, Patel UK, Arumaithurai K, Malik P. Dravet Syndrome: An Overview. Cureus. 2019;11(6):e5006
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