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September 25, 2025Brain CommunicationsOpen Access

Clinical and molecular characterisation of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases

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Authors

NJNatalia Juliá‐PalaciosGMGerard Muñoz‐PujolRMReza Maroofian

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Overview

Clinical findings spotlight early-onset epileptic encephalopathy in patients with SLC31A1 mutations, suggesting related mitochondrial dysfunction.

Key Points

  • A distinct clinical phenotype was identified, including severe neurodevelopmental delay and high mortality.
  • Genetic analysis found bi-allelic SLC31A1 variants, with significant implications for patient management.
  • Functional studies revealed impaired mitochondrial respiration, indicating a potential pathomechanism.
  • Neuroimaging demonstrated significant brain atrophy, emphasizing the urgent need for therapeutic investigations.

Cite This Study

Juliá‐Palacios et al. (2025) studied this question.

synapsesocial.com/papers/68d5bd64dc445aa9033b020chttps://doi.org/10.1093/braincomms/fcaf348
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