Introduction: Hyperactive catatonia is often unrecognized in pediatric patients due to its
clinical heterogeneity, though it is often seen in children with neurodevelopmental …

Mutations in SYNGAP1 are a common genetic cause of intellectual disability (ID) and a risk
factor for autism. SYNGAP1 encodes a synaptic GTPase-activating protein (GAP) that has …

Gastrointestinal symptoms are common in most forms of neurodevelopment disorders
(NDDs) such as in autism spectrum disorders (ASD). The current patient-reported outcome …

SYNGAP1 is a high-confidence autism spectrum disorder (ASD) risk gene, and mutations in
SYNGAP1 lead to a neurodevelopmental disorder (NDD) that presents with epilepsy, ASD …

Mutations in SYNGAP1, a protein enriched at glutamatergic synapses, cause intellectual
disability associated with epilepsy, autism spectrum disorder, and sensory dysfunctions …

Background and aims SYNGAP1-related disorder (SYNGAP1-RD) is a prevalent genetic
form of Autism Spectrum Disorder and Intellectual Disability (ASD/ID) and is caused by de …

Aim To examine neurobehavioral findings in three genetic syndromes (PTEN hamartoma
tumor syndrome, Malan syndrome [mutations in the NFIX gene], and SYNGAP1‐related …

Functions of the cerebellar cortex, from motor learning to emotion and cognition, depend on
the appropriate molecular composition at diverse synapse types. Glutamate receptor …

SYNGAP1‐ID is a neurodevelopmental disorder caused by a mutation of the SYNGAP1
gene. Characterized by moderate to severe developmental delay, it is associated with …

Methods: We used CRISPR/Cas9 to introduce frameshift mutations in the syngap1a and
syngap1b zebrafish duplicates (syngap1ab) and validated these stable models for Syngap1 …