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

---

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, Scopus)

• 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
• Open Archive Collection: AVESIS Open Access Collection
• Dokuz Eylül University Affiliated: Yes

Abstract

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