Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of
disorders characterized by early-onset, often severe epileptic seizures and EEG …

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

Malfunctions of voltage-gated sodium and calcium channels (encoded by SCNxA and
CACNA1x family genes, respectively) have been associated with severe neurologic …

Migraine is a common neurological disorder with large burden in terms of disability for
individuals and costs for society. Accurate diagnosis and effective treatments remain …

The activity‐dependent fusion, retrieval and recycling of synaptic vesicles is essential for the
maintenance of neurotransmission. Until relatively recently it was believed that most …

This review summarizes our current knowledge of human disease-relevant genetic variants
within the family of voltage gated Ca2+ channels. Ca2+ channelopathies cover a wide …

Background and Objectives Purine-rich element-binding protein A (PURA) gene encodes
Pur-α, a conserved protein essential for normal postnatal brain development. Recently, a …

Abstract Purpose of Review Since the advent of next-generation sequencing, the number of
genes associated with dystonia has been growing exponentially. We provide here a …

Distant metastasis is the main cause of mortality in breast cancer patients. Using the breast
cancer genomic data from The Cancer Genome Atlas (TCGA), we identified brain specific …

Dystonia is a clinically, genetically, and biologically heterogeneous hyperkinetic movement
disorder caused by the dysfunctional activity of neural circuits involved in motor control. Our …