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2 articles related to "Ion Channel Gene Defect"

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Articles

Clinical Case Study

Published on 19 Dec 2014

Severe Neonatal Epileptic Encephalopathy and KCNQ2 Mutation: Neuropathological Substrate?

in Neonatology

Charlotte Dalen Meurs-van der Schoor
Mirjam van Weissenbruch
Marjan van Kempen
Marianna Bugiani
Eleonora Aronica
Hanneke Ronner
R. Jeroen Vermeulen

Frontiers in Pediatrics

doi 10.3389/fped.2014.00136

10,896 views
20 citations

Case Report

Published on 26 Aug 2022

Case report: Novel SCN4A variant associated with a severe congenital myasthenic syndrome/myopathy phenotype

in Pediatric Neurology

Veronika M. Berghold
Mahmoud Koko
Riccardo Berutti
Barbara Plecko

Frontiers in Pediatrics

doi 10.3389/fped.2022.944784

4,896 views
13 citations