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

Advanced identification of the gene mutations causing epilepsy syndromes is expected to
translate into faster diagnosis and more effective treatment of these conditions. Over the last …

Abstract AMPA (α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid) receptors
(AMPARs) mediate fast excitatory neurotransmission in the brain. AMPARs form by homo-or …

Excitatory neurotransmission is principally mediated by α-amino-3-hydroxy-5-methyl-4-
isoxazolepropionic acid (AMPA)-subtype ionotropic glutamate receptors (AMPARs) …

AMPA receptors are members of the glutamate receptor family and mediate a fast
component of excitatory synaptic transmission at virtually all central synapses. Thus, their …

Early-life seizures (ELSs) can cause permanent cognitive deficits and network
hyperexcitability, but it is unclear whether ELSs induce persistent changes in specific …

De novo variants are increasingly recognized as a common cause of early infantile epileptic
encephalopathies. We present a 4-yr-old male with epileptic encephalopathy characterized …

The clinical phenotype of GRIA2-related neurodevelopmental disorder (GRIA2-NDD)
comprises global developmental delay, cognitive and language impairment with poor or …

Neurofibromatosis Type 1 (NF1) is one of the most common genetically inherited disorders
that affects 1 in 3000 children annually. Clinical manifestations vary widely but nearly always …

Genotype and clinical phenotype analyses of 128 children were performed based on whole
exome sequencing (WES), providing a reference for the provision of genetic counseling and …