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Modulating effects of FGF12 variants on NaV1.2 and NaV1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case series

Summary: Objective: Fibroblast Growth Factor 12 (FGF12) may represent an important modulator of neuronal network activity and has been associated with developmental and epileptic encephalopathy (DEE). We sought to identify the underlying pathomechanism of FGF12-related disorders. Methods: Patients...

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Principais autores: Simone Seiffert, Manuela Pendziwiat, Tatjana Bierhals, Himanshu Goel, Niklas Schwarz, Amelie van der Ven, Christian Malte Boßelmann, Johannes Lemke, Steffen Syrbe, Marjolein Hanna Willemsen, Ulrike Barbara Stefanie Hedrich, Ingo Helbig, Yvonne Weber
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2022-09-01
Serier:EBioMedicine
Fag:
FGF12
Sodium channels
Epilepsy
SCN2A
SCN8A
Autism spectrum disorder
Online adgang:http://www.sciencedirect.com/science/article/pii/S2352396422004169
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