Background Duchenne muscular dystrophy (DMD) is a severe, progressive, and rare
neuromuscular, X-linked recessive disease. Dystrophin deficiency is the underlying cause of …

Objective Moyamoya disease (MMD) is a cerebrovascular occlusive disease of the bilateral
internal carotid arteries that causes a compensatory abnormal vascular network at the base …

AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations
of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role …

Nanoscale electrokinetic phenomenon called ion concentration polarization (ICP) has
opened a new era in bio-and chemical-analysis platform due to its high efficiency and easy …

Pediatric stroke is relatively rare but may lead to significant morbidity and mortality. Along
with the advance of brain imaging technology and clinical awareness, diagnosis of pediatric …

Background Neuromuscular disorders are a clinically, pathologically, and genetically
heterogeneous group. Even for the experienced clinician, an accurate diagnosis is often …

Background Duchenne muscular dystrophy or Becker muscular dystrophy might be a
suitable candidate disease for application of next-generation sequencing in the genetic …

Summary Objective Pathogenic SLC6A1 variants were recently described in patients with
myoclonic atonic epilepsy (MAE) and intellectual disability (ID). We set out to define the …

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

Despite substantial advances in disease genetics, studies to date have largely focused on
individuals of European descent. This limits further discoveries of novel functional genetic …