The early and late benign occipital epilepsies of childhood (BOEC) are described as two discrete electro-clinical syndromes, eponymously known as Panayiotopoulos and Gastaut syndromes. Our aim was to explore the clinical features, classification and clinical genetics of these syndromes using twin and multiplex family studies to determine whether they are indeed distinct. Sixteen probands includ...

Hereditary syndromes account for 5% to 10% of cases of colorectal cancer. In clinical practice, patients with these syndromes need to be identified to ensure that they and their families receive genetic counseling and testing and appropriate risk-reducing treatment. Genetic testing can offer a precise diagnosis. It allows for risk stratification and focused management and surveillance.

Understanding the genetic basis of hearing loss is important because almost 50% of profound hearing loss are caused by genetic factors and more than 120 independent genes have been identified. In this review, after a brief explanation of some genetic terms (allele, heterozygosis, homozygosis, polymorphism, genotype and phenotype), classification of genetic hearing loss (syndromic versus nonsynd...

Background Genetic profiling by RNA microarray of normal and neoplastic colonic tissue is used to identify biomarkers for development of a diagnostic tool for the inherited colon cancer syndromes. The utility of this method is to 1) properly classify patients where genetic diagnosis is incomplete 2) suggest molecular pathways that are shared between the syndromes and 3) identify molecular targe...

Overgrowth syndromes comprise a heterogeneous group of diseases that are characterized by excessive tissue development. Some of these syndromes may be associated with dysfunction in the receptor tyrosine kinase (RTK)/PI3K/AKT pathway, which results in an increased expression of the insulin receptor. In the current review, four overgrowth syndromes were characterized (Proteus syndrome, Klippel-T...

Hereditary cancer predisposition syndromes comprise approximately 10% of diagnosed cancers; however, familial forms are believed to account for up to 30% of some cancers. In Hispanics, the most commonly diagnosed hereditary cancers include colorectal cancer syndromes such as, Lynch Syndrome, Familial Adenomatous Polyposis, and hereditary breast and ovarian cancer syndromes. Although the inciden...

Syndromes of schizophrenia, bipolar disorder, obsessive-compulsive substance use disorders and Alzheimer's dementia are highly heritable. About 10-20% subjects have another affected first degree relative (FDR), thus represent a 'greater' genetic susceptibility. We screened 3583 families to identify 481 with multiple members, assessed 1406 individuals in person, collected information systematica...

There are currently almost no genetic data associated with the acute coronary syndromes of unstable angina or myocardial infarction (MI). The only documented genetic variants associated with increased risk for MI, per se, are the A and B blood group variants. There are no genetic data differentially associated with ST segment elevation MI or non-ST segment elevation MI. Genetic variants predisp...