INTRODUCTION A mutation affecting behaviour occurred in a heterogeneous stock of mice at The Jackson Laboratory in 1956. Genetical tests showed that the mutant gene was semi-dominant with incomplete penetrance, and lethal in the homozygous condition. Further studies established that its effects on the inner ear were different from those of other genes affecting behaviour in a similar manner. It...

This article provides an overview of the problem of genetic susceptibility to childhood cancer with a particular emphasis on problems with ascertaining inherited cancer risk and the role of tumor-suppressor gene mutations in cancer predispositions. The association between neurofibromatosis type 1 and childhood leukemia is used to illustrate some of the issues faced by molecular biologists and g...

Familial hypokalemic periodic paralysis is an autosomal-dominant channelopathy characterized by episodic muscle weakness with hypokalemia. The respiratory and cardiac muscles typically remain unaffected, but we report an atypical case of a family with hypokalemic periodic paralysis in which the affected members presented with frequent respiratory insufficiency during severe attacks. Molecular a...

Background: Local anesthetic resistance is a clinical entity characterized by inadequate analgesia despite technically well-performed procedures. The exact etiology and pathogenesis of this condition are not yet fully understood. Case Presentation: A 36-year-old Caucasian female presented to labor delivery for induction labor. On admission, the patient reported failure epidural anesthesia durin...

Due to novel gene therapy opportunities, genetic screening is no longer restricted familial cases of ALS (FALS) but also aplies the sporadic populations (SALS). Screening four main genes (C9orf72, SOD1, TARDBP and FUS) identified causes in 15% Amyotrophic Lateral Sclerosis (ALS) patients (two third 8% ones) their respective contribution phenotype varies according age disease onset. The overlap ...