Objective Rett syndrome (RTT) and epileptic encephalopathy (EE) are devastating
neurodevelopmental disorders with distinct diagnostic criteria. However, highly …

Objective To characterize the phenotypic spectrum associated with GNAO 1 variants and
establish genotype‐protein structure‐phenotype relationships. Methods We evaluated the …

Pathogenic de novo variants in the X‐linked gene SLC35A2 encoding the major Golgi‐
localized UDP‐galactose transporter required for proper protein and lipid glycosylation …

The recoding of genetic information through RNA editing contributes to proteomic diversity,
but the extent and significance of RNA editing in disease is poorly understood. In particular …

Introduction: Therapy with current antiepileptic drugs aims at reducing the likelihood of
seizure occurrence rather than influencing the underlying disease process. Therefore …

The proper connection between the pre-and post-synaptic nervous cells depends on any
element constituting the synapse: the pre-and post-synaptic membranes, the synaptic cleft …

Motivation Loss-of-function genetic variants are frequently associated with severe clinical
phenotypes, yet many are present in the genomes of healthy individuals. The available …

In order to characterize the genetic architecture of epilepsy in a pediatric population from the
Iberian Peninsula (including the Canary Islands), we conducted targeted exome sequencing …

Epilepsy is one of the most frequent neurological diseases, with focal epilepsy accounting
for the largest number of cases. The genetic alterations involved in focal epilepsy are far …

Epileptic encephalopathies are characterized by recurrent clinical seizures and prominent
interictal epileptiform discharges seen during the early infantile period. Although epileptic …