Epileptic Disorders
MENUEarly 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
Illustrations
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
- DOI : 10.1684/epd.2021.1345
- Page(s) : 954-6
- Année de parution : 2021
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 [...]