Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy


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Mignot C., von Stuelpnagel C., Nava C., Ville D., Sanlaville D., Lesca G., ...More

JOURNAL OF MEDICAL GENETICS, vol.53, no.8, pp.511-522, 2016 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 53 Issue: 8
  • Publication Date: 2016
  • Doi Number: 10.1136/jmedgenet-2015-103451
  • Journal Name: JOURNAL OF MEDICAL GENETICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.511-522
  • Dokuz Eylül University Affiliated: Yes

Abstract

Objective We aimed to delineate the neurodevelopmental spectrum associated with SYNGAP1 mutations and to investigate genotype-phenotype correlations.