Expanding the phenotype of PURA-related developmental epileptic encephalopathy

Guido Rubboli*, Katrine M. Johannesen

*Corresponding author for this work

Research output: Contribution to journalComment/debateResearchpeer-review

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Original languageEnglish
JournalEpileptic Disorders
Volume24
Issue number2
Pages (from-to)445-446
Number of pages2
ISSN1294-9361
DOIs
Publication statusPublished - Apr 2022

Keywords

  • Child
  • DNA-Binding Proteins/genetics
  • Developmental Disabilities/genetics
  • Epilepsy/genetics
  • Humans
  • Mutation
  • Phenotype
  • Spasms, Infantile
  • Transcription Factors/genetics

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