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Genetic Insights Into Hypothalamic Hamartoma: Unraveling Somatic Variants.

Lina SamiMathilde ChipauxSarah Ferrand-SorbetsMarion DoladilheChristine BulteauEmmanuel RaffoSarah RosenbergGeorg DorfmullerRayann ChecriJean-Madeleine de Sainte AgatheEric Le GuernHoma Adle-BiassetteSara BaldassariStephanie Baulac
Published in: Neurology. Genetics (2024)
as a potential novel disease-causing gene. This study emphasizes the increasing importance of brain mosaicism in epilepsy disorders and underscores the critical role of genetic diagnosis derived from resected brain tissue.
Keyphrases
  • copy number
  • genome wide
  • resting state
  • white matter
  • functional connectivity
  • dna methylation
  • lymph node
  • multiple sclerosis
  • risk assessment
  • human health
  • transcription factor
  • brain injury