Diagnostic implications of genetic copy number variation in epilepsy plus

EuroEPINOMICS-RES Consortium, EpiCNV Consortium, Antonietta Coppola, Elena Cellini, Elmo Saarentaus, Aarno Palotie, Anna-Elina Lehesjioki, Sarah von Spiczak

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
JournalEpilepsia
Volume60
Issue number4
Pages (from-to)689-706
Number of pages18
ISSN0013-9580
DOIs
Publication statusPublished - Apr 2019
MoE publication typeA1 Journal article-refereed

Fields of Science

  • array CGH
  • copy number variants
  • epilepsy genes
  • SNP array
  • DE-NOVO MUTATIONS
  • MOLECULAR CHARACTERIZATION
  • CHROMOSOMAL MICROARRAY
  • ILAE COMMISSION
  • ONSET EPILEPSY
  • RORB GENE
  • PATIENT
  • ENCEPHALOPATHY
  • DISABILITIES
  • PHENOTYPE
  • 3112 Neurosciences
  • 3124 Neurology and psychiatry
  • 1184 Genetics, developmental biology, physiology

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