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

doi:10.1093/brain/awac210

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Article

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

Brain : a journal of neurology - 21 Nov 2022

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

Abstract excerpt

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. Novel SCN1A-related phenotypes have been described including early infantile developmental and epileptic...

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PMID: 35696452
DOI: 10.1093/brain/awac210
PMCID: PMC9679167

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