Sjögren–Larsson syndrome (SLS) is an autosomal recessively inherited neurocutaneous
disorder caused by a deficiency of the microsomal enzyme fatty aldehyde dehydrogenase (…

Ataxia‐telangiectasia ( AT ) is an autosomal recessive neurodegenerative disorder with
immunodeficiency and an increased risk of developing cancer, caused by mutations in the ataxia…

Cerebral palsy (CP) is the most common physical disability in early childhood. The worldwide
prevalence of CP is approximately 2–2.5 per 1,000 live births. It has been clinically defined …

We show here that children with pyridoxine-dependent seizures (PDS) have mutations in the
ALDH7A1 gene, which encodes antiquitin; these mutations abolish the activity of antiquitin …

Purpose: Implementation of novel genetic diagnostic tests is generally driven by technological
advances because they promise shorter turnaround times and/or higher diagnostic yields. …

Background DYNC1H1 encodes the heavy chain protein of the cytoplasmic dynein 1 motor
protein complex that plays a key role in retrograde axonal transport in neurons. Furthermore, …

Ataxia‐telangiectasia (A‐T) is an autosomal recessive neurodegenerative disorder with
multisystem involvement and cancer predisposition, caused by mutations in the A‐T mutated (…

Glucokinase (GCK) is a key regulatory enzyme in the pancreatic β-cell and catalyzes the
rate-limiting step for β-cell glucose metabolism. We report two novel GCK mutations (T65I and …

Chorea is a hyperkinetic movement disorder resulting from dysfunction of striatal medium
spiny neurons (MSNs), which form the main output projections from the basal ganglia. Here, …

Cerebellar ataxia (CA) and hereditary spastic paraplegia (HSP) are two of the most prevalent
motor disorders with extensive locus and allelic heterogeneity. We implemented clinical …