Developmental and epileptic encephalopathies, the most severe group of epilepsies, are
characterized by seizures and frequent epileptiform activity associated with developmental …

In the last several decades, advances in genetic testing have transformed the diagnostic and
therapeutic approach to pediatric epilepsy. However, the interpretation of these genetic tests …

N-methyl-d-aspartate receptors (NMDARs) are members of the glutamate receptor family
and participate in excitatory postsynaptic transmission throughout the central nervous …

Objective N‐methyl‐d‐aspartate (NMDA) receptors are expressed at synaptic sites, where
they mediate fast excitatory neurotransmission. NMDA receptors are critical to brain …

The rate of discovery and increased understanding of genetic causes for
neurodevelopmental disorders has peaked over the past decade. It is well recognised that …

Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of
epilepsies characterized by early‐onset, refractory seizures associated with developmental …

Abstract Introduction: Neurodevelopmental disorders (NDDs) are diverse and can be
explained by either genomic aberrations or single nucleotide variants. Most likely due to …

Genetic dissection of the epilepsies is revealing the extraordinary biological diversity of
molecular pathways leading to these common neuronal synchronization disorders …

We describe a set of monozygotic twins with Glutamate Ionotropic Receptor N-methyl-D-
aspartate Type Subunit 2B-related neurodevelopmental disorder (GRIN2B-ND) who …