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April 4, 2026Epilepsia0 citationsOpen Access

Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain‐expressed sodium channelopathies

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SGSopio GverdtsiteliSOSebastian OrtizTBTobias Brünger

Key Points

  • This research aims to identify and expand the clinical phenotype of neonatal developmental and epileptic encephalopathy with regards to specific sodium channels.
  • Reviewed genetic characteristics of sodium channel genes SCN1A, SCN2A, SCN3A, and SCN8A.
  • Analyzed their expression in brain tissues.
  • Compared phenotypic expressions across these gene variants.
  • Expanded the phenotype of NDEEMA to include paralogue sodium channel genes.
  • Identified shared clinical characteristics related to various sodium channel gene mutations.
  • Provided insights into potential genetic underpinnings of movement disorders and arthrogryposis.

Abstract

This study expands the phenotype of NDEEMA from SCN1A to its paralogue sodium channel genes expressed in the brain: SCN2A, SCN3A, and SCN8A.

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Cite This Study

Gverdtsiteli et al. (2026) studied this question.

synapsesocial.com/papers/69d0af36659487ece0fa5112https://doi.org/10.1002/epi.70220
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Also Consider

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

  1. 1Loss-of-function mutations inSCN4Acause severe foetal hypokinesia or ‘classical’ congenital myopathy2015 · 126 citations
  2. 2Genotype–phenotype associations in 1018 individuals with SCN1A‐related epilepsies2024 · 38 citations
  3. 3Mapping structural distribution and gating-property impacts of disease-associated mutations in voltage-gated sodium channels2024 · 7 citations
  4. 4Sodium Channel SCN3A (NaV1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development2018 · 169 citations
  5. 5Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders2017 · 598 citations