Epileptic encephalopathies of infancy and childhood comprise a large, heterogeneous
group of severe epilepsies characterised by several seizure types, frequent epileptiform …

Objective Determining the genetic basis of speech disorders provides insight into the
neurobiology of human communication. Despite intensive investigation over the past 2 …

Although the normal physiological level of oxidative stress is beneficial for maintaining bone
homeostasis, imbalance between reactive oxygen species (ROS) production and …

Objective To understand the etiological landscape and phenotypic differences between 2
developmental and epileptic encephalopathy (DEE) syndromes: DEE with spike–wave …

The tragedy of epilepsy emerges from the combination of its high prevalence, impact upon
sufferers and their families, and unpredictability. Childhood epilepsies are frequently severe …

Massively parallel sequencing has revealed many de novo mutations in the etiology of
developmental and epileptic encephalopathies (EEs), highlighting their genetic …

Background The availability of multiple in silico tools for prioritizing genetic variants widens
the possibilities for converting genomic data into biological knowledge. However, in …

Periventricular nodular heterotopia (PVNH) is a malformation of cortical development
commonly associated with epilepsy. We exome sequenced 202 individuals with sporadic …

Background In the past decade, the identification of gene co-expression has become a
routine part of the analysis of high-dimensional microarray data. Gene co-expression, which …

Early onset schizophrenia (EOS, defined as first onset of schizophrenia before age 18) is a
rare form of schizophrenia (SCZ). Though genome-wide association studies (GWASs) have …