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The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals.

Pia ZacherThomas MayerFrank BrandhoffTobias BartolomaeusDiana Le DucMartin FinzelAnja HeinzeSusanne HornChiara KlöcknerGudrun KörberJulia HentschelMalgorzata KalitaIlona KreyMarina Nastainczyk-WulfKonrad PlatzerJohannes RebstockBernt PoppMathias StillerAnne-Christin TeichmannRami Abou JamraJohannes R Lemke
Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)
Panel/exome sequencing displayed the highest yield and should be considered as first-tier diagnostics in NDDE. This high yield and the numerous indications for additional screening or treatment modifications arising from genetic diagnoses indicate a current medical undersupply of genetically undiagnosed adult/elderly individuals with NDDE. Moreover, knowledge of the course of elderly individuals will ultimately help in counseling newly diagnosed individuals with NDDE.
Keyphrases
  • intellectual disability
  • middle aged
  • newly diagnosed
  • copy number
  • healthcare
  • genome wide
  • autism spectrum disorder
  • community dwelling
  • single cell
  • dna methylation
  • hiv infected