Epilepsy phenotype in individuals with chromosomal duplication encompassing FGF12

Marjolein H Willemsen, Himanshu Goel, Judith S Verhoeven, Hilde M H Braakman, Nicole de Leeuw, Alison Freeth, Berge A Minassian

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)301-306
Number of pages6
JournalEpilepsia open
Volume5
Issue number2
DOIs
Publication statusPublished - Jun 2020

Keywords

  • developmental regression
  • epilepsy
  • FGF12
  • intellectual disability
  • LINE
  • microduplication 3q28q29

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