The first family identified as having a nonsyndromic intellectual disability was mapped in
1988. Here we show that a mutation of IQSEC2, encoding a guanine nucleotide exchange …

Background Many genes are candidates for involvement in epileptic encephalopathy (EE)
because one or a few possibly pathogenic variants have been found in patients, but …

Rett syndrome and neurodevelopmental disorders with features overlapping this syndrome
frequently remain unexplained in patients without clinically identified MECP2 mutations. We …

Purpose Variants in IQSEC2, escaping X inactivation, cause X-linked intellectual disability
with frequent epilepsy in males and females. We aimed to investigate sex-specific …

IQSEC2 (aka BRAG1) is a guanine nucleotide exchange factor (GEF) highly enriched in
synapses. As a top neurodevelopmental disorder risk gene, numerous mutations are …

Background This study aimed to investigate the new genetic etiologies of Rett syndrome
(RTT) or Rett‐like phenotypes. Methods Targeted next‐generation sequencing (NGS) was …

Despite the recent acceleration in the discovery of genetic risk factors for intellectual
disability (ID), the genetic etiology of ID is unknown in approximately half of cases and …

Objective IQSEC 2 is an X‐linked gene associated with intellectual disability (ID) and
epilepsy. Herein we characterize the epilepsy/epileptic encephalopathy of patients with …

Several genes have been implicated in Rett syndrome (RTT) in its typical and variant forms.
We applied next‐generation sequencing (NGS) to evaluate for mutations in known or new …

Precise trafficking events, such as those that underlie synaptic transmission and plasticity,
require complex regulation. G-protein signaling plays an essential role in the regulation of …