Rapid advances in sequencing technology have led to an explosive increase in the number
of genetic variants identified in patients with neurological disease and have also enabled …

Highlights•NMDAR rare variants are associated with various neuropsychiatric
disorders.•Functional consequences of variants differ among domains.•Evaluation of …

Abstract Introduction Large variability among Alzheimer's disease (AD) cases might impact
genetic discoveries and complicate dissection of underlying biological pathways. Methods …

Microexons represent the most highly conserved class of alternative splicing, yet their
functions are poorly understood. Here, we focus on closely related neuronal microexons …

Rett syndrome (RTT) is a unique neurodevelopmental disorder that primarily affects females
resulting in severe cognitive and physical disabilities. Despite the commendable collective …

Hyperpolarization-activated cyclic nucleotide-gated (HCN) channels control neuronal
excitability and their dysfunction has been linked to epileptogenesis but few individuals with …

Introduction Rett syndrome (RTT) is a severe X‐linked neurodevelopmental disorder that
primarily affects girls, with an incidence of 1: 10,000–20,000. The diagnosis is based on …

Autosomal dominant mutations in GRIN2B are associated with severe encephalopathy, but
little is known about the pathophysiological outcomes and any potential therapeutic …

Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that primarily affects
females, resulting in severe cognitive and physical disabilities, and is one of the most …

Previous reports have identified SLC 6A1 variants in patients with generalized epilepsies,
such as myoclonic‐atonic epilepsy and childhood absence epilepsy. However, to date, none …