| Description |
1 online resource (99 pages) : color illustrations |
| Series |
Cambridge elements. Elements in genetics in epilepsy |
|
Elements in genetics in epilepsy.
|
| Contents |
Patient, family and foundation perspectives -- Basic science of KCNQ2 and KCNQ3 -- Genotype-phenotype correlations -- Treatment of KCNQ2-associated epilepsies |
| Summary |
"KCNQ2 and KCNQ3 encode subunits (KV7.2, KV7.3) that combine to form a voltagegated potassium ion (K ) channel responsible for generating an ionic current (M-current) important for controlling activity in the nervous system. Pathogenic variants in both genes are associated with a spectrum of genetic neurological disorders that feature epilepsy of variable severity and can be accompanied by debilitating impaired neurodevelopment. These two genes were among the first discovered causes of monogenic epilepsy, and are frequently identified in persons with early-life epilepsy. This Element provides a comprehensive review of the clinical features, genetic basis, pathophysiology, pharmacology and treatment of these prototypical neurological disorders accompanied by perspectives shared by affected families and scientists who have made seminal contributions to the field"-- Provided by publisher |
| Bibliography |
Includes bibliographical references |
| Notes |
Description based on online resource; title from digital title page (viewed on November 30, 2022) |
| Subject |
Infantile spasms -- Genetic aspects
|
|
Infantile spasms -- Etiology
|
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Epilepsy -- Genetic aspects.
|
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Epilepsy -- Etiology
|
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Epilepsy, Benign Neonatal -- genetics
|
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Epilepsy, Benign Neonatal -- etiology
|
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KCNQ2 Potassium Channel -- metabolism
|
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KCNQ3 Potassium Channel -- metabolism
|
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Epilepsy -- Etiology
|
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Epilepsy -- Genetic aspects
|
| Form |
Electronic book
|
| Author |
Weckhuysen, Sarah, editor.
|
|
George, Alfred L., editor.
|
| LC no. |
2022036492 |
| ISBN |
9781009278270 |
|
1009278274 |
|
