Literature DB >> 35696452

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

Andreas Brunklaus1,2, Tobias Brünger3, Tony Feng1,2, Carmen Fons4, Anni Lehikoinen5, Eleni Panagiotakaki6, Mihaela-Adela Vintan7, Joseph Symonds1,2, James Andrew2, Alexis Arzimanoglou4,6, Sarah Delima8, Julie Gallois9, Donncha Hanrahan10, Gaetan Lesca11, Stewart MacLeod2, Dragan Marjanovic12, Amy McTague13,14, Noemi Nuñez-Enamorado15, Eduardo Perez-Palma16, M Scott Perry17, Karen Pysden18, Sophie J Russ-Hall19, Ingrid E Scheffer19,20,21, Krystal Sully22,23, Steffen Syrbe24, Ulvi Vaher25, Murugan Velayutham26, Julie Vogt27, Shelly Weiss28, Elaine Wirrell29, Sameer M Zuberi1,2, Dennis Lal3,30,31,32, Rikke S Møller12,33, Massimo Mantegazza34,35,36, Sandrine Cestèle34,35.   

Abstract

Entities:  

Keywords:  zzm321990 SCN1Azzm321990 ; arthrogryposis; epilepsy; gain of function; movement disorder

Year:  2022        PMID： 35696452     DOI： 10.1093/brain/awac210

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


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  1 in total

Review 1.  Concise Review: Stem Cell Models of SCN1A-Related Encephalopathies-Current Perspective and Future Therapies.

Authors:  Valery Zayat; Roza Szlendak; Dorota Hoffman-Zacharska
Journal:  Cells       Date:  2022-10-04       Impact factor: 7.666
  1 in total

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