GABRG2 mutations in genetic epilepsy with febrile seizures plus: structure, roles, and molecular genetics
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Genetic epilepsy with febrile seizures plus (GEFS+) is a genetic epilepsy syndrome characterized by a marked hereditary tendency inherited as an autosomal dominant trait. Patients with GEFS+ may develop typical febrile seizures (FS), while generalized tonic–clonic seizures (GTCSs) with fever commonly occur between 3 months and 6 years of age, which is generally followed by febrile seizure plus (FS+), with or without absence seizures, focal seizures, or GTCSs. GEFS+ exhibits significant genetic heterogeneity, with polymerase chain reaction, exon sequencing, and single nucleotide polymorphism analyses all showing that the occurrence of GEFS+ is mainly related to mutations in the gamma-aminobutyric acid type A receptor gamma 2 subunit (GABRG2) gene. The most common mutations in GABRG2 are separated in large autosomal dominant families, but their pathogenesis remains unclear. The predominant types of GABRG2 mutations include missense (c.983A → T, c.245G → A, p.Met199Val), nonsense (R136*, Q390*, W429*), frameshift (c.1329delC, p.Val462fs*33, p.Pro59fs*12), point (P83S), and splice site (IVS6+2T → G) mutations. All of these mutations types can reduce the function of ion channels on the cell membrane; however, the degree and mechanism underlying these dysfunctions are different and could be linked to the main mechanism of epilepsy. The γ2 subunit plays a special role in receptor trafficking and is closely related to its structural specificity. This review focused on investigating the relationship between GEFS+ and GABRG2 mutation types in recent years, discussing novel aspects deemed to be great significance for clinically accurate diagnosis, anti-epileptic treatment strategies, and new drug development.Keywords:
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The history of medical genetics was reviewed in this article, through formal genetics, cytogenetics and biochemical genetics to molecular genetics. The application of analysis and integration in medical genetics is summarized, and the blueprint of medical genetics is also discussed.
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Introduction SECTION ONE: BASIC GENETICS The cellular and molecular basis of inheritance Patterns of inheritance Laboratory techniques used in clinical genetics SECTION TWO: CLINICAL GENETICS Counselling techniques Chromosomal abnormalities or cytogenetics Single gene disorders Multifactorial conditions Cancer genetics Pre-natal diagnosis Dysmorphic children SECTION THREE: PRIMARY CARE PERSPECTIVES OF GENETICS Screening methods Referral and primary/secondary interface Ethical issues The patient perspective Appendix Glossary of genetic terms
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Although genetics has its roots back in the 19th century with the work of Gregor Mendel and other pioneering scientists,but medical molecular genetics emerged much later.The genetic architecture of common diseases is an important factor in determining the extent to which patterns of genetic variation influence group differences in health outcomes.Medical molecular genetics is the application of genetic research to medicine in a broad and varied field.It encompasses many different individual fields,including clinical genetics,biochemical genetics,cytogenetics,molecular genetics,the genetics of common diseases and genetic counseling.Each of the individual fields within medical molecular genetics is a hybrid,which leads to the current medical development and promotes the transfer of traditional symptom medicine to true prevention medicine.
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The lecture discusses the role of modern genetics and its significance for medicine, determines the goals of genetics and its structure. It is shown that modern medical genetics is divided into general, clinical and laboratory genetics. Other fields of genetics are genomics, molecular and biochemical genetics, cytogenetics, developmental genetics, oncogenetics and immunogenetics, pharmacogenetics, population genetics, ecological genetics, nutrigenetics, toxico-genetics. It is noted that about 20–40 % of clinic patients have hereditary pathology. The main possibilities of modern genetics, such as human genome sequencing, molecular genetic diagnosis of hereditary pathology, personalized medicine, genetic certification, identification of genetic markers for oncological diseases, determination of individual drug sensitivity using pharmacogenetics methods, gene therapy of previously incurable diseases, medical bioengineer-ing and genome editing. The issues of biological aging of the body and the possibility of prolonging active longevity by the methods of modern genetics are discussed. Conclusions are drawn about the need to introduce knowledge, skills and abilities in the field of clinical genetics propaedeutics, genetic testing and interpretation of its results, treat-ment and prevention using modern genetics methods into the system of higher medical education.
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Section A: Principles of Human Genetics The history and impact of genetics in medicine The cellular and molecular basis of inheritance Chromosomes and cell division DNA technology and applications Developmental genetics Patterns of inheritance Mathematical and population genetics Polygenic and multifactorial inheritance Section B: Genetics in Medicine Haemaoglobin and the haemoglobinopathies Biochemical genetics Pharmacogenetics Immunogenetics The genetics of cancer Genetic factors in common diseases Genetics and congenital abnormalities Section C: Clinical Genetics Genetic counseling Chromosome disorders Single gene disorders Carrier detection and presymptomatic diagnosis Risk calculation Prenatal diagnosis of genetic disease Population screening and community genetics The human genome project, treatment of genetic disease and gene therapy Ethical issues in medical genetics Appendix: Advice on using the Internet for further genetics research Glossary
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INHERITANCE AND PREDISPOSITION. Introduction to Clinical Genetics: Genes, Traits, and Pedigrees. Mendelian Inheritance. Multifactorial Determination and the Genetics of Common Diseases. Population Genetics. Measuring Genetic Predisposition: Common Diseases, Pharmacogenetics, and Ecogenetics. LABORATORY GENETICS, NEW DEVELOPMENTS. From Gene to Trait: Levels of Genetic Information. Genetics at the Chromosome Level: Cytogenetics. Genetics at the DNA Level: Molecular Genetics and DNA Diagnosis. Genetics at the Cellular Level: Developmental, Cancer, and Immunogenetics. New Applications of Clinical Genetics: Atypical Inheritance Mechanisms and Gene Therapy. CLINICAL GENETICS. Pediatric Genetics: Birth Defects and Syndromology. Pediatric Genetics: Inborn Errors of Metabolism. Genetics in the Surgical Specialities. Genetics and Adult Medicine. Reproductive Genetics and Prenatal Diagnosis. Genetics, Allied Health, and Preventive Management: The Clinical Genetics Care Pathway. Glossary. Index.
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