John Libbey Eurotext

Early diagnosis and experimental treatment with fenfluramine via the Investigational New Drug mechanism in a boy with Dravet syndrome and recurrent status epilepticus Volume 23, numéro 6, December 2021


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Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA
* Correspondence: Heather Olson Boston Children's Hospital, 300 Longwood Ave., Mailstop 3063, Boston, MA 02115, USA
* Authors contributed equally

Over the last two decades, advances in the field of epilepsy genetics have led to hope for precision treatments [1], and certain genetic diagnoses can direct treatment strategies [2, 3]. One of the most common genetic epilepsies is Dravet syndrome (DS), associated with the gene SCN1A, which encodes sodium voltage-gated channel alpha subunit 1 [4]. Here, we describe a boy with DS presenting with recurrent status epilepticus (SE). Early identification of a pathogenic SCN1A variant led to expedited [...]