Epilepsy with eyelid myoclonias and Sotos syndrome features in a patient with compound heterozygous missense variants in APC2 gene

Vincenzo Mastrangelo, Raffaella Minardi, Maria Chiara Baroni, Giulia Severi, Enrico Ambrosini, Francesco Toni, Lara Alvisi, Laura Licchetta, Francesca Bisulli, Paolo Tinuper, Barbara Mostacci

Research output: Contribution to journalArticlepeer-review

Original languageEnglish
Pages (from-to)169-171
Number of pages3
JournalSeizure
Volume83
DOIs
Publication statusPublished - Dec 2020

Keywords

  • Generalized epilepsy
  • Jeavons syndrome
  • Macrocephaly
  • NSD1
  • Overgrowth

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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