The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications

Brunklaus, Andreas; Brünger, Tobias; Feng, Tony; Fons, Carmen; Lehikoinen, Anni; Panagiotakaki, Eleni; Adela Vințan, Mihaela; D. Symonds, Joseph; E. Andrew, James; Arzimanoglou, Alexis; Delima, Sarah; Gallois, Julie; Hanrahan, Donncha; Lesca, Gaëtan; Macleod, Stewart; Marjanović, Dragan; McTague, Amy; Nuñez-Enamorado, Noemi; Pérez‐Palma, Eduardo; Scott Perry, Μ.; Pysden, Karen; Russ-Hall, Sophie; E. Scheffer, Ingrid; Sully, Krystal; Syrbe, Steffen; Vaher, Ulvi; Velayutham, Murugan; Vogt, Julie; K. Weiss, Shelly; Wirrell, Elaine; M. Zuberi, Sameer; Lal, Dennis; S. Møller, Rikke; Mantegazza, Massimo; Cestèle, Sandrine

doi:10.1093/brain/awac210

Public

The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications

Published in Brain • Jun 13, 2022

Authors:

Andreas Brunklaus

Tobias Brünger

Tony Feng

Abstract

Brain voltage-gated sodium channel NaV1.1 (SCN1A) loss-of-function variants cause the severe epilepsy Dravet syndrome, as well as milder phenotypes associated with genetic epilepsy with febrile seizures plus. Gain of function SCN1A variants are associated with familial hemiplegic migraine type 3. No...

Subject

Dravet syndrome

Epilepsy

Familial hemiplegic migraine

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