Epilepsy is a group of disorders characterized by recurrent seizures, and is one of the most
common neurological conditions. The genetic basis of epilepsy is clear from epidemiological …

The postsynaptic density (PSD) is a massive protein complex, critical for synaptic strength
and plasticity in excitatory neurons. Here, the scaffolding protein PSD-95 plays a crucial role …

Highlights•N-Methyl-d-aspartate receptors (NMDARs) diversity in brain is briefly
described.•We review recent studies on NMDAR subunit mutations in neurodevelopmental …

Autism spectrum disorders and epilepsy commonly co-occur. In this review, we consider
some unresolved questions regarding the temporal relationship, causal mechanisms, and …

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 …

Epigenome‐wide association study (EWAS) has been applied to analyze DNA methylation
variation in complex diseases for a decade, and epigenome as a research target has …

Pediatric refractory epilepsy is a broad phenotypic spectrum with great genetic
heterogeneity. Next-generation sequencing (NGS) combined with Sanger sequencing could …

Ion channels are crucial in the generation and modulation of excitability in the nervous
system and have been implicated in human epilepsy. Forty-one epilepsy-associated ion …

Epilepsies are multifaceted neurological disorders characterized by abnormal brain activity,
eg caused by imbalanced synaptic excitation and inhibition. The neural extracellular matrix …