Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with increasing
prevalence. Over 1,000 risk genes have now been implicated in ASD, suggesting diverse …

The UBE3A gene, located in the chromosomal region 15q11-13, is subject to neuron-
specific genomic imprinting and it plays a critical role in brain development. Genetic defects …

Summary Chromosome 15q11-q13 duplication syndrome (Dup15q) is a
neurodevelopmental disorder caused by maternal duplications of this region. Autism and …

Objective Duplication of the maternal chromosome 15q11. 2‐q13. 1 region causes Dup15q
syndrome, a highly penetrant neurodevelopmental disorder characterized by severe autism …

Background Sleep disturbances are a prevalent and complex comorbidity in
neurodevelopmental disorders (NDDs). Dup15q syndrome (duplications of 15q11. 2-13.1) is …

The 15q11. 2q13 chromosomal region is particularly susceptible to chromosomal
rearrangements due to low-copy repeats (LCRs) located inside this area. Specific …

Genomic mechanisms enhancing risk in males may contribute to sex bias in autism. The
ubiquitin protein ligase E3A gene (Ube3a) affects cellular homeostasis via control of protein …

Angelman Syndrome (AS) is a severe neurodevelopmental disorder with only symptomatic
treatment currently available. Besides mutations within the UBE3A gene, AS is caused by …

Chromosomal aberrations, particularly copy-number variations (CNVs), are prevalent in
neurodevelopmental disorders (NDD) and significantly contribute to their pathogenesis …

CADM1 Cadm1-KO deficit in coordination, deficit in learning (Takayanagi et al., 2010)
CDKL5 Cdkl5-/y similar coordination, deficit in learning (Adhikari et al., 2022; Gao et al …