De novo SCN3A missense variant associated with self-limiting generalized epilepsy with fever sensitivity

Katrine M. Johannesen*, Elena Gardella, Philip K. Ahring, Rikke S. Møller

*Corresponding author for this work

Research output: Contribution to journalJournal articleResearchpeer-review

Abstract

Objective: Although the number of affected individuals is relatively low, pathogenic SCN3A variants have been reported in a range of phenotypes, from focal epilepsy to severe developmental and epileptic encephalopathy with polymicrogyria. Methods: Case report and inclusion of current literature. Results: Here, we report a normally developed boy with self-limiting generalized epilepsy with fever sensitivity due to a likely pathogenic SCN3A variant. He had febrile seizures from the age of one year, which were successfully treated with valproate. After tapering off medication, he only had rare breakthrough seizures, always associated with fever. At the age of 12 he continues to develop normally and have normal cognition. Reviewing the literature, there appears to be a correlation between functional outcome and phenotype. Gain of function SCN3A variants are seen in individuals with a severe epilepsy, cognitive impairment and brain malformations, while loss of function variants are seen in individuals with epilepsy, varying degrees of cognitive impairment, including normal cognition, but no brain malformations. Significance: The genotype-phenotype correlations in SCN3A-related disorders presented here, will be important for families and clinicians alike, for diagnostic as well as possibly future treatment options.

Original languageEnglish
Article number104577
JournalEuropean Journal of Medical Genetics
Volume65
Issue number10
Number of pages5
ISSN1769-7212
DOIs
Publication statusPublished - Oct 2022

Bibliographical note

Publisher Copyright:
© 2022 Elsevier Masson SAS

Keywords

  • Epilepsy
  • Genetics
  • SCN3A
  • Voltage-gated sodium channel

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