INTRODUCTION Brain disorders may exhibit shared symptoms and substantial epidemiological
comorbidity, inciting debate about their etiologic overlap. However, detailed study of …

Migraine is a debilitating neurological disorder affecting around one in seven people worldwide,
but its molecular mechanisms remain poorly understood. There is some debate about …

Migraine is the most common brain disorder, affecting approximately 14% of the adult
population, but its molecular mechanisms are poorly understood. We report the results of a meta-…

Several case series of extreme early-onset obesity due to mutations in the human leptin
receptor (LEPR) gene have been reported. In this review we summarize published functional …

Purpose To characterise the prevalence of pathogenic germline mutations in BRCA1 and
BRCA2 in families with breast cancer (BC) and ovarian cancer (OC) history. Patients and …

Intellectual disability inherited in an autosomal-recessive fashion represents an important
fraction of severe cognitive-dysfunction disorders. Yet, the extreme heterogeneity of these …

Heterozygous missense mutations in the N-terminal motor or coiled-coil domains of the
kinesin family member 5A (KIF5A) gene cause monogenic spastic paraplegia (HSP10) and …

Dopamine transporter deficiency syndrome due to SLC6A3 mutations is the first inherited
dopamine ‘transportopathy’ to be described, with a classical presentation of early infantile-…

Purpose To characterize the molecular genetics of autosomal recessive Noonan syndrome.
Methods Families underwent phenotyping for features of Noonan syndrome in children and …

Kabuki syndrome (KS) is one of the classical, clinically well-known multiple anomalies/mental
retardation syndromes, mainly characterized by a very distinctive facial appearance in …