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

EuroEPINOMICS-RES MAE working group

doi:10.1136/jmedgenet-2015-103451

Scientific article

English

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

ContributorsEuroEPINOMICS-RES MAE working group

CollaboratorsMignot, Cyril; von Stülpnagel, Celina; Korff, Christian

Published inJournal of Medical Genetics, vol. 53, no. 8, p. 511-522

Publication date2016

Abstract

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

Affiliation entities

Faculté de médecine / Section de médecine clinique / Département de pédiatrie, gynécologie et obstétrique

Citation (ISO format)

EuroEPINOMICS-RES MAE working group. Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy. In: Journal of Medical Genetics, 2016, vol. 53, n° 8, p. 511–522. doi: 10.1136/jmedgenet-2015-103451

Article (Published version)

Identifiers

PID : unige:96875
DOI : 10.1136/jmedgenet-2015-103451
PMID : 26989088

Journal ISSN0022-2593

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

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

Technical informations