Little information is available about autism spectrum disorder services in the Kingdom of
Saudi Arabia. A sample of 205 parents completed an online survey about the use of autism …

We describe nine previously unreported individuals from six families who have homozygous
mutations of HOXA1 and either the Bosley–Salih–Alorainy syndrome (BSAS) or the …

Objective Through international collaboration, we evaluated the phenotypic aspects of a
multiethnic cohort of KCNT1‐related epilepsy and explored genotype‐phenotype correlations …

Proteins anchored to the cell surface via glycosylphosphatidylinositol (GPI) play various key
roles in the human body, particularly in development and neurogenesis. As such, many …

Developmental epileptic encephalopathies are devastating disorders characterized by
intractable epileptic seizures and developmental delay. Here, we report an allelic series of …

Bi‐allelic TECPR2 variants have been associated with a complex syndrome with features of
both a neurodevelopmental and neurodegenerative disorder. Here, we provide a …

The present study evaluates the effects of a behavioral skill training package on parent
implementation of discrete trial teaching with their children with autism spectrum disorder. Three …

There is a growing interest in standardizing gene-disease associations for the purpose of
facilitating the proper classification of variants in the context of Mendelian diseases. One key …

Objective To determine optimal interstimulus interval (ISI) and pulse duration (D) for direct
cortical stimulation (DCS) motor evoked potentials (MEPs) based on rheobase and chronaxie …

Objectives: To assess how clinical services are accessed and utilized by young children
with suspected autism spectrum disorder (ASD) and identifying factors that prevent the early …