Background Recent studies indicate an increased frequency of mutations in the gene
encoding glucocerebrosidase (GBA), a deficiency of which causes Gaucher's disease, among …

Clustered attacks of epileptic episodes originating from the frontal lobe during sleep are the
main symptoms of autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE, MIM …

Importance While mutations in glucocerebrosidase (GBA1) are associated with an increased
risk for Parkinson disease (PD), it is important to establish whether such mutations are also …

Dietary fat is an important source of nutrition. Here we identify eight mutations in SARA2 that
are associated with three severe disorders of fat malabsorption. The Sar1 family of proteins …

Background Background The leucine-rich repeat kinase 2 gene (LRRK2) harbours highly
penetrant mutations that are linked to familial parkinsonism. However, the extent of its …

Autosomal recessive, early‐onset P arkinsonism is clinically and genetically heterogeneous.
Here, we report the identification, by homozygosity mapping and exome sequencing, of a …

Background Several factors, both clinical and genetic, may account for the risk of developing
levodopa-induced peak-dose dyskinesias (PDD) in patients with Parkinson disease, but it …

Febrile seizures (FS) affect 5–12% of infants and children up to 6 years of age. There is now
epidemiological evidence that FS are associated with subsequent afebrile and unprovoked …

DJ‐1 gene mutations have been found to cause early‐onset Parkinson's disease. We report
a family from southern Italy with three brothers affected by early‐onset parkinsonism, …

Objective: Eleven genetic loci have reached genome-wide significance in a recent meta-analysis
of genome-wide association studies in Parkinson disease (PD) based on populations …