Autism spectrum disorder (ASD) is a neurodevelopmental disorder that affects social
interaction and communication, with restricted interests, activity and behaviors. ASD is highly …

Voltage-gated calcium channels are the primary mediators of depolarization-induced
calcium entry into neurons. There is great diversity of calcium channel subtypes due to …

Adrenal aldosterone-producing adenomas (APAs) constitutively produce the salt-retaining
hormone aldosterone and are a common cause of severe hypertension. Recurrent …

At least 5% of individuals with hypertension have adrenal aldosterone-producing adenomas
(APAs). Gain-of-function mutations in KCNJ5 and apparent loss-of-function mutations in …

There is increasing evidence that autism spectrum disorders (ASDs) can arise from rare
highly penetrant mutations and genomic imbalances. The rare nature of these variants, and …

Congenital stationary night blindness (CSNB) refers to a group of genetically and clinically
heterogeneous retinal disorders. Seventeen different genes with more than 360 different …

Autism spectrum disorder (ASD) is a severe neuropsychiatric disease with strong genetic
underpinnings. However, genetic contributions to autism are extremely heterogeneous, with …

Sensory experience is critical for the proper development and plasticity of the brain
throughout life. Successful adaptation to the environment is necessary for the survival of an …

Autism spectrum disorder (ASD) and schizophrenia (SCZ) are two common
neurodevelopmental syndromes that result from the combined effects of environmental and …

An increasing number of genetic variants have been implicated in autism spectrum
disorders (ASDs), and the functional study of such variants will be critical for the elucidation …