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April 9, 2024Neurology

Concurrent SCN1a and PNPT1 Mutations in a Young Male: A Case Report (P3-3.019)

Rachel Green Lauren Osborne Amy Brown

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Abstract

To present an unusual case of a young male with both SCN1a and PNPT1 mutations.

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Green et al. (2024) studied this question.

synapsesocial.com/papers/68e6fdb8b6db64358767807a https://doi.org/10.1212/wnl.0000000000204649

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Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Novel SCN1A Mutation in a Proband With Malignant Migrating Partial Seizures of Infancycase_report · 2011 · 93 citations
2A PNPLA6 Variant Case Report With a Combination of Heterozygous Mutations (P3-9.014)Case Report · 2026
3Novel compound heterozygous mutations in SCN4A as a potential genetic cause contributing to myopathic manifestations: A case report and literature review2024 · 2 citations
4A Novel De Novo Heterozygous <i>SCN4a</i> Mutation Causing Congenital Myopathy, Myotonia and Multiple Congenital Anomaliescase_report · 2019 · 9 citations
5Reduced Penetrance and Variable Expression of SCN5A Mutations and the Importance of Co-inherited Genetic Variants: Case Report and Review of the Literaturecase_report · 2014 · 21 citations

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