Malformations of cerebral cortical development include a wide range of developmental
disorders that are common causes of neurodevelopmental delay and epilepsy. In addition …

The protonation state of soluble and membrane-associated macromolecules dictates their
charge, conformation, and functional activity. In addition, protons (H+ or their equivalents) …

To find inherited causes of autism-spectrum disorders, we studied families in which parents
share ancestors, enhancing the role of inherited factors. We mapped several loci, some …

Angelman Syndrome is a debilitating neurological disorder caused by mutation of the E3
ubiquitin ligase Ube3A, a gene whose mutation has also recently been associated with …

Large-scale systematic resequencing has been proposed as the key future strategy for the
discovery of rare, disease-causing sequence variants across the spectrum of human …

Na+/H+ exchangers play pivotal roles in the control of cell and tissue pH by mediating the
electroneutral exchange of Na+ and H+ across cellular membranes. They belong to an …

X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder.
During the past two decades in excess of 100 X-chromosome ID genes have been …

This study identifies and analyzes statistically significant overlaps between selective sweep
screens in anatomically modern humans and several domesticated species. The results …

Background We sought to investigate the diagnostic yield and mutation spectrum in
previously reported genes for early-onset epilepsy and disorders of severe developmental …

This brief review of the human Na/H exchanger gene family introduces a new classification
with three subgroups to the SLC9 gene family. Progress in the structure and function of this …