Ion channel diseases edited by Guy Rouleau, Claudia Gaspar.
Series Advances in genetics ; v. 63Detalles de publicación: Amsterdam Boston Academic Press c2008.Descripción: x, 157 p. ill. 24 cmISBN:- 9780123745279
- 0123745276
- 571.64 22
- 616.07 22
- QH431.A1 A3 V.63
| Imagen de cubierta | Tipo de ítem | Biblioteca actual | Biblioteca de origen | Colección | Ubicación en estantería | Signatura topográfica | Materiales especificados | Info Vol | URL | Copia número | Estado | Notas | Fecha de vencimiento | Código de barras | Reserva de ítems | Prioridad de la cola de reserva de ejemplar | Reservas para cursos | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Referencia | Biblioteca Encarnación Valdés Sala de Referencia bev | 575.1 A244 (Navegar estantería(Abre debajo)) | v.63 | Disponible | 80000002374844 |
Descripciones mejoradas de Syndetics:
Ion channel dysfunction in humans leads to impairment of the excitable processes necessary for the normal function of several tissues, such as muscle and brain. It follows that an increasing number of human diseases have been associated with malfunctioning ion channels, many of which have a genetic component. This volume of Advances in Genetics presents a broad and comprehensive overview of the inherited channelopathies in humans, including clinical, genetic and molecular aspects of these conditions. Keeping true to the scope of the serial, novel genomic and modeling research approaches and a review of potential therapeutic approaches for each of these conditions are also incorporated.
Includes bibliographical references and index.
Periodic paralysis Bertrand Fontaine -- Myotonia congenita Christoph Lossin and Alfred L. George, Jr. -- Familial hemiplegic migraine Curtis F. Barrett ... [et al.] -- Genetics and molecular pathophysiology of Na [v below line] 1.7-related pain syndromes Sulayman D. Dib-Hajj, Yong Yang, and Stephen G. Waxman -- Channelopathies of transepithelial transport and vesicular function Christian A. Hübner and Thomas J. Jentsch.
Tabla de contenidos provista por Syndetics
- Contributors(p. ix)
- Part I Muscle Channelopathies(p. 1)
- 1 Periodic Paralysis(p. 3)
- I Introduction(p. 4)
- II Hypokalemic Periodic Paralysis(p. 4)
- III Hyperkalemic Periodic Paralysis(p. 11)
- IV Other Types of Periodic Paralysis(p. 14)
- V Functional Studies of Muscle Ion Channel Mutations in Patients(p. 15)
- VI Treatment and Care of hypoPP Patients(p. 17)
- VII Conclusion(p. 18)
- References(p. 18)
- 2 Myotonia Congenita(p. 25)
- I Introduction(p. 26)
- II Clinical Aspects of Myotonia Congenita(p. 26)
- III Molecular Genetics of Myotonia Congenita(p. 32)
- IV Physiological Basis of Myotonia Congenita(p. 40)
- V Myotonia Congenita in Animal Models(p. 45)
- VI Treatment of Myotonia Congenita(p. 46)
- VII Concluding Remarks(p. 48)
- References(p. 49)
- 3 Familial Hemiplegic Migraine(p. 57)
- I Introduction(p. 58)
- II The Migraine Attack: Clinical Phases and Pathophysiology(p. 61)
- III The Migraine Aura and Cortical Spreading Depression(p. 61)
- IV Migraine as a Genetic Disorder(p. 63)
- V Familial Hemiplegic Migraine: A Model for Common Migraine(p. 65)
- VI Functional Consequences of FHM Mutations(p. 68)
- VII FHM as an Ionopathy: Identifying a Common Theme Among FHM Subtypes(p. 73)
- VIII Concluding Remarks(p. 75)
- References(p. 75)
- 4 Genetics and Molecular Pathophysiology of Na[subscript v]1.7-Related Pain Syndromes(p. 85)
- I Introduction(p. 86)
- II Role of Na[subscript v]1.7 in Pain Syndromes: Animal Studies(p. 90)
- III Na[subscript v]1.7 and Inherited Pain Syndromes(p. 92)
- IV Conclusions(p. 104)
- References(p. 104)
- Part II Internal Diseases(p. 111)
- 5 Channelopathies of Transepithelial Transport and Vesicular Function(p. 113)
- I Introduction(p. 114)
- II Disorders(p. 116)
- III Concluding Remarks(p. 142)
- References(p. 142)
- Index(p. 153)