Identification of a mosaic MTOR variant in purified neuronal DNA in a patient with focal cortical dysplasia using a novel depth electrode harvesting technique

Documenti analoghi

• Detecting somatic variants in purified brain DNA obtained from surgically implanted depth electrodes in epilepsy
  di: Rumika Mascarenhas, et al.
  Pubblicazione: (2025)
• Pathogenic MTOR somatic variant causing focal cortical dysplasia drives hyperexcitability via overactivation of neuronal GluN2C N‐methyl‐D‐aspartate receptors
  di: Louison Pineau, et al.
  Pubblicazione: (2024)
• Ictal unilateral blinking in temporal focal cortical dysplasia a clinical vignette
  di: Kattia J. Alfaro Vásquez, et al.
  Pubblicazione: (2024)
• Rethinking drug resistance in focal cortical dysplasia‐related epilepsy
  di: Nathan T. Cohen, et al.
  Pubblicazione: (2026)
• A public benchmark for human performance in the detection of focal cortical dysplasia
  di: Lennart Walger, et al.
  Pubblicazione: (2025)