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書名 Genetics of epilepsy [electronic resource] / edited by Ortrud K. Steinlein
出版項 Amsterdam : Elsevier Science, 2014
國際標準書號 9780444633330 (electronic bk.)
0444633332 (electronic bk.)
book jacket
說明 1 online resource (vii, 329 p.) : ill.
系列 Progress in brain research ; 213
Progress in brain research ; 213
附註 Description based upon print version of record
Front Cover; Genetics of Epilepsy; Copyright; Contributors; Preface; Contents; Chapter 1: Genetic heterogeneity in familial nocturnal frontal lobe epilepsy; 1. Introduction; 2. CHRNA4 and CHRNB2: The ̀̀classicaĺ ́ ADNFLE Genes; 3. The Clinical Spectrum of nAChR-Caused ADNFLE; 4. CHRNA2: A Rare Cause of Familial NFLE; 5. Biopharmacological Profiles of nAChR Mutations; 6. Severe ADNFLE Caused by KCNT1 Mutations; 7. DEPDC5 as a Cause of Familial Focal Epilepsy; 8. Conclusions; References; Chapter 2: Potassium channel genes and benign familial neonatal epilepsy; 1. Introduction
2. Potassium Channels2.1. How Potassium Channels Regulate Neuronal Excitability; 2.2. Potassium Channels in Epilepsy and Related Disorders; 2.2.1. Mutations in KV1.1 Cause Episodic Ataxia; 2.2.2. KCa1.1 Mutation Linked to Paroxysmal Dyskinesia and Epilepsy; 2.2.3. KV4.2 and Acquired Epilepsy; 3. Biology of KCNQ2 and KCNQ3 Channels; 3.1. Meet the KCNQs; 3.1.1. KCNQ1; 3.1.2. KCNQ2 and KCNQ3; 3.1.3. KCNQ4; 3.1.4. KCNQ5; 3.2. Structural and Functional Hallmarks of KV7.2/3 Channels; 3.2.1. What Happens at the C-terminus?; Assembly of KV7 Channels; Regulation of the M-current Targeting and Localization of KV7.2/7.3 Channels3.3. Expression Pattern of Neuronal KV7 Channels; 3.4. Insights from the Mouseland; 3.5. Functional Analysis of Disease-Related Mutations; 3.6. KCNQ2 and KCNQ3 Channelopathies; 3.7. KCNQ2/3 Mutations in BFNS; 3.7.1. Clinical Features and Genetics of BFNS; 3.7.2. Pathogenic Mechanisms in BFNS; Mechanisms of Spontaneous Seizure Remission in BFNS; 3.8. KCNQ2-Related EE; 3.8.1. Clinical and Genetic Features; 3.8.2. Pathophysiologic Mechanisms of EE; 3.9. KCNQ2 Mutations and PNH; 3.9.1. Clinical Picture and Genetics
3.9.2. Mechanisms Underlying PNH4. Antiepileptic Therapies Targeting KV7 Channels; 4.1. The Novel Anticonvulsant Compound Retigabine Is a KV7 Channel Opener; 4.1.1. Mapping the RTG Binding Site; 4.1.2. Other KV7 Openers; 4.2. Novel Therapies Involving KV Channels; 4.2.1. KV Channel Gene Therapy; 4.2.2. Human Cellular Models of Epilepsy; 5. Conclusions; 5.1. Five Things We Learned from KCNQ Channels Involved in Epilepsy; References; Chapter 3: Mutant GABAA receptor subunits in genetic (idiopathic) epilepsy; 1. GABAA Receptors; 2. Mutations and Genetic Variations of the GABAA Receptor
5.3. Mutations in Dravet Syndrome
The book chapters cover different aspects of epilepsy genetics, starting with the ""classical"" concept of epilepsies as ion channel disorders. The second part of the book gives credit to the fact that by now non-ion channel genes are recognized as equally important causes of epilepsy. The concluding chapters are designed to offer the reader insight into current methods in epilepsy research. Each chapter is self-contained and deals with a selected topic of interest. Authors are the leading experts in the field of epilepsy researchBook covers the most important aspects of epilepsy Interesting
鏈接 Print version: Steinlein, Ortrud Genetics of Epilepsy Burlington : Elsevier Science,c2014 9780444633262
主題 Epilepsy -- Genetic aspects
Electronic books
Alt Author Steinlein, Ortrud
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