A balanced translocation disruptsSYNGAP1in a patient with intellectual disability, speech impairment, and epilepsy with myoclonic absences (EMA)
about
Two knockdown models of the autism genes SYNGAP1 and SHANK3 in zebrafish produce similar behavioral phenotypes associated with embryonic disruptions of brain morphogenesis.Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability.
P2860
A balanced translocation disruptsSYNGAP1in a patient with intellectual disability, speech impairment, and epilepsy with myoclonic absences (EMA)
description
im November 2011 veröffentlichter wissenschaftlicher Artikel
@de
scientific article published on 02 November 2011
@en
wetenschappelijk artikel
@nl
наукова стаття, опублікована в листопаді 2011
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name
A balanced translocation disru ...... with myoclonic absences (EMA)
@en
A balanced translocation disru ...... with myoclonic absences (EMA)
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type
label
A balanced translocation disru ...... with myoclonic absences (EMA)
@en
A balanced translocation disru ...... with myoclonic absences (EMA)
@nl
prefLabel
A balanced translocation disru ...... with myoclonic absences (EMA)
@en
A balanced translocation disru ...... with myoclonic absences (EMA)
@nl
P2093
P2860
P50
P1433
P1476
A balanced translocation disru ...... with myoclonic absences (EMA)
@en
P2093
Helle Hjalgrim
Laura L Klitten
Marina Nikanorova
P2860
P304
P356
10.1111/J.1528-1167.2011.03304.X
P577
2011-11-02T00:00:00Z