Huntington's disease (HD) is an inherited neurodegenerative disorder characterised by a
combination of motor abnormalities (chorea, dystonia, hypokinesia), cognitive impairment …

Pitt‐Hopkins syndrome (PTHS) is a neurodevelopmental disorder characterized by
intellectual disability, specific facial features, and marked autonomic nervous system …

Heterozygous copy-number variants and SNPs of CNTNAP2 and NRXN1, two distantly
related members of the neurexin superfamily, have been repeatedly associated with a wide …

Pitt-Hopkins syndrome is a rarely reported syndrome of so-far-unknown etiology
characterized by mental retardation, wide mouth, and intermittent hyperventilation. By …

Objective: To determine the phenotypic spectrum caused by mutations in GRIN1 encoding
the NMDA receptor subunit GluN1 and to investigate their underlying functional …

Behavioural differences have been described in patients with type I deletions (between
breakpoints 1 and 3 (BP1–BP3)) or type II deletions (between breakpoints 2 and 3) of the …

Huntington disease (HD) is caused by a CAG repeat expansion in the huntingtin (HTT)
gene. Although the length of this repeat is inversely correlated with age of onset (AOO), it …

The etiology of mental retardation remains elusive in the majority of cases. Microdeletions
within chromosomal bands 5q14. 3q15 were recently identified as a recurrent cause of …

Purpose Pathogenic variants in ARID1B are one of the most frequent causes of intellectual
disability (ID) as determined by large-scale exome sequencing studies. Most studies …

Background Heterozygous copy-number and missense variants in CNTNAP2 and NRXN1
have repeatedly been associated with a wide spectrum of neuropsychiatric disorders such …