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In Vivo Forward Genetic Screen to Identify Novel Neuroprotective Genes in Drosophila melanogaster
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BRAT1 Mutation Retrospective Diagnosis: A Case Report.

Fabiana Vercellino1, Massimo Valerio1, Maria Pia Dusio2

  • 1Child Neuropsychiatry Unit, SS Antonio e Biagio e Cesare Arrigo Hospital, Alessandria, ITA.

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Summary

Biallelic mutations in the BRAT1 gene cause severe neurological disorders like Lethal neonatal rigidity and multifocal seizure syndrome (RMFSL). Novel genetic testing enabled diagnosis of a past case, highlighting its utility for unsolved conditions.

Keywords:
brat1 gene sequencingbrat1 mutationepileptic encephalopathylethal neonatal rigidityneonatal hypertonia

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Area of Science:

  • Genetics
  • Neuroscience
  • Pediatrics

Background:

  • Biallelic mutations in the BRAT1 gene are linked to Lethal neonatal rigidity and multifocal seizure syndrome (RMFSL), a severe neurodevelopmental disorder.
  • BRAT1 mutations have also been associated with milder phenotypes, including epilepsy and congenital ataxia (NEDCAS).
  • The proposed mechanism involves impaired mitochondrial homeostasis, affecting neuronal proliferation, migration, and causing atrophy.

Observation:

  • A female infant presented with clinical, EEG, and MRI findings consistent with RMFSL.
  • The diagnosis was established three years post-mortem.
  • Genetic analysis identified a known pathogenic BRAT1 variant in both parents.

Findings:

  • This case confirms the association between BRAT1 mutations and the severe RMFSL phenotype.
  • The diagnosis was achieved retrospectively through parental genetic testing.
  • The study highlights the diagnostic power of advanced genetic technologies in retrospectively analyzing unsolved cases.

Implications:

  • This underscores the importance of considering BRAT1 mutations in neonatal encephalopathies with epilepsy.
  • Novel genetic technologies offer powerful tools for diagnosing previously unsolved pediatric neurological disorders.
  • Retrospective genetic diagnosis can provide closure and inform future research and clinical management.