Epilepsy is a common and serious neurologic disease with a strong genetic component.
Genetic studies have identified an increasing collection of disease-causing genes. The …

The underlying molecular basis for neurodevelopmental or neuropsychiatric disorders is not
known. In contrast, mechanistic understanding of other brain disorders including …

Neuronal ceroid lipofuscinosis (NCLs) is a group of inherited neurodegenerative lysosomal
storage diseases that together represent the most common cause of dementia in children …

Lipid droplets (LDs) are ubiquitous fat storage organelles composed of a neutral lipid core,
comprising triacylglycerols (TAG) and sterol esters (SEs), surrounded by a phospholipid …

The neuronal ceroid lipofuscinoses (NCL) are a group of disorders defined by shared
clinical and pathological features, including seizures and progressive decline in vision …

Amino acids are essential for cellular protein synthesis, growth, metabolism, signaling and in
stress responses. Cell plasma membranes harbor specialized transporters accumulating …

Epilepsy is a common, serious neurological disorder worldwide. Although this disease can
be successfully treated in most cases, not all patients respond favorably to medical …

Objective Several small case series identified KCTD7 mutations in patients with a rare
autosomal recessive disorder designated progressive myoclonic epilepsy (EPM3) and …

Oligomerization endows proteins with some key properties such as extra-stabilization, long-
range allosteric regulation (s), and partnerships not accessible to their monomeric …

Introduction: Neuronal ceroid lipofuscinoses (NCL) are neurodegenerative lysosomal
storage disorders typically characterized by cognitive and visual impairments, epileptic …