tailieunhanh - Ebook Clinical molecular medicine - Principles and practice: Part 2

Part 2 book "Clinical molecular medicine - Principles and practice" includes content: Molecular genetic management of epilepsy, the human leukocyte antigen system in human disease and transplantation medicine, disorders of abnormal hemoglobin, coagulation and bleeding disorders, .and other contents. | C H A P T E R 16 Molecular genetic management of epilepsy David Lewis-Smith1 2 Donald P. Craig1 Naomi . Thomas3 Khalid Hamandi4 5 and Rhys H. Thomas1 2 3 1 Department of Neurology Royal Victoria Infirmary Newcastle University Newcastle-Upon-Tyne United Kingdom 2 Institute of Neuroscience Newcastle University Newcastle-Upon-Tyne United Kingdom 3Wellcome Trust Centre for Mitochondrial Research Newcastle University Newcastle-Upon-Tyne United Kingdom 4Cardiff University Brain Research Imaging Centre Cardiff University Cardiff United Kingdom 5Department of Neurology University Hospital of Wales Cardiff United Kingdom Introduction The last 20 years have seen the field of epilepsy genetics move from detailed observation of clinical features in twins or families to the discovery of classes of genes and types of variation associated with many of these epilep- sies. The corollary of these discoveries has been the rapid introduction of clinically useful genetic testing in cer- tain scenarios. It has been a surprise to researchers in the field just how useful some of these tests have become creating the opportunity for precision medicine with targeted therapeutics or avoidance of certain drugs in lim- ited situations. Precision medicine remains an ambition in most cases yet the prospect is only possible because of our better understanding of the genetic architecture of the epilepsies 1 . This chapter focuses on the role of clinical genetics in epilepsy. Epilepsy is a condition in which the brain has an enduring increased predisposition to seizures 2 . Seizures are a symptom of many clinically heterogeneous neurological diseases so we shall focus on the epilepsies those disorders in which seizures are the predominant manifestation with or without the presence of other neurodevelopmental or neurodegenerative disorders. We will first summarize the nature of seizures and epilepsy in sufficient detail to facilitate shared understanding of phenotype between the geneticist .