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; 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

doi:10.1093/brain/awac210

Title

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

Publication Date

2022-06-13

Author(s)

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

Subject

SCN1A

arthrogryposis

epilepsy

gain of function

movement disorder

Type of document

Journal Article

OrcId

0000-0002-7728-6903

0000-0002-2141-4216

0000-0002-4489-4697

0000-0002-1070-7929

0000-0002-4809-9340

0000-0002-2311-2174

DOI

10.1093/brain/awac210

Link

link

Citation

Brain: a Journal of Neurology 2022; 145(11)

Jornal Title

Brain : a journal of neurology

Austin Health

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