Many physiologic effects of l-glutamate, the major excitatory neurotransmitter in the
mammalian central nervous system, are mediated via signaling by ionotropic glutamate …

Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of
disorders characterized by early-onset, often severe epileptic seizures and EEG …

Involvement of the glutamate system, particularly N-methyl-D-aspartate (NMDA) receptor
hypofunction, has long been postulated to be part of the pathophysiology of schizophrenia …

Advances in sequencing technology have generated a large amount of genetic data from
patients with neurological conditions. These data have provided diagnosis of many rare …

Considerable genetic variation of N-methyl-d-aspartate receptors (NMDARs) has recently
become apparent, with many hundreds of de novo variants identified through widely …

Epilepsy is one of the most common neurological disorders characterized by recurrent
seizures. The mechanism of epilepsy remains unclear and previous studies suggest that N …

Epilepsy is a common disease of the nervous system characterized by transient brain
dysfunction caused by an abnormal electrical discharge from the brain neurons. The …

Objective: The objective of this study is to explore the role of GRIN2A gene in idiopathic
generalized epilepsies and the potential underlying mechanism for phenotypic variation …

Schizophrenia is a heterogeneous psychiatric disorder with a strong genetic basis, whose
etiology and pathophysiology remain poorly understood. Exome sequencing studies have …

The short pre-M1 helix within the S1–M1 linker (also referred to as the pre-M1 linker)
between the agonist-binding domain (ABD, S1) and the M1 transmembrane helix of the …