KCNQ2- and KCNQ3-associated epilepsy / / edited by Sarah Weckhuysen, Alfred L. George.
KCNQ2 and KCNQ3 encode subunits (KV7.2, KV7.3) that combine to form a voltage-gated 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...
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Superior document: | Cambridge elements. Elements in genetics in epilepsy, |
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TeilnehmendeR: | |
Place / Publishing House: | Cambridge : : Cambridge University Press,, 2022. |
Year of Publication: | 2022 |
Edition: | First edition. |
Language: | English |
Series: | Elements in genetics in epilepsy,
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Physical Description: | 1 online resource (99 pages) :; digital, PDF file(s). |
Notes: | Title from publisher's bibliographic system (viewed on 10 Nov 2022). |
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KCNQ2- and KCNQ3-associated epilepsy / edited by Sarah Weckhuysen, Alfred L. George. First edition. Cambridge : Cambridge University Press, 2022. 1 online resource (99 pages) : digital, PDF file(s). text txt rdacontent computer c rdamedia online resource cr rdacarrier Cambridge elements. Elements in genetics in epilepsy, 2633-2086 Includes bibliographical references. Title from publisher's bibliographic system (viewed on 10 Nov 2022). Patient, family and foundation perspectives -- Basic science of KCNQ2 and KCNQ3 -- Genotype-phenotype correlations -- Treatment of KCNQ2-associated epilepsies. KCNQ2 and KCNQ3 encode subunits (KV7.2, KV7.3) that combine to form a voltage-gated 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. This title is also available as Open Access on Cambridge Core. Epilepsy Diagnosis. Weckhuysen, Sarah, editor. George, Alfred L., editor. 1-009-27826-6 Elements in genetics in epilepsy, 2633-2086. |
language |
English |
format |
eBook |
author2 |
Weckhuysen, Sarah, George, Alfred L., |
author_facet |
Weckhuysen, Sarah, George, Alfred L., |
author2_variant |
s w sw a l g al alg |
author2_role |
TeilnehmendeR TeilnehmendeR |
title |
KCNQ2- and KCNQ3-associated epilepsy / |
spellingShingle |
KCNQ2- and KCNQ3-associated epilepsy / Cambridge elements. Elements in genetics in epilepsy, Patient, family and foundation perspectives -- Basic science of KCNQ2 and KCNQ3 -- Genotype-phenotype correlations -- Treatment of KCNQ2-associated epilepsies. |
title_full |
KCNQ2- and KCNQ3-associated epilepsy / edited by Sarah Weckhuysen, Alfred L. George. |
title_fullStr |
KCNQ2- and KCNQ3-associated epilepsy / edited by Sarah Weckhuysen, Alfred L. George. |
title_full_unstemmed |
KCNQ2- and KCNQ3-associated epilepsy / edited by Sarah Weckhuysen, Alfred L. George. |
title_auth |
KCNQ2- and KCNQ3-associated epilepsy / |
title_new |
KCNQ2- and KCNQ3-associated epilepsy / |
title_sort |
kcnq2- and kcnq3-associated epilepsy / |
series |
Cambridge elements. Elements in genetics in epilepsy, |
series2 |
Cambridge elements. Elements in genetics in epilepsy, |
publisher |
Cambridge University Press, |
publishDate |
2022 |
physical |
1 online resource (99 pages) : digital, PDF file(s). |
edition |
First edition. |
contents |
Patient, family and foundation perspectives -- Basic science of KCNQ2 and KCNQ3 -- Genotype-phenotype correlations -- Treatment of KCNQ2-associated epilepsies. |
isbn |
1-009-27825-8 1-009-27828-2 1-009-27827-4 1-009-27826-6 |
issn |
2633-2086 |
callnumber-first |
R - Medicine |
callnumber-subject |
RC - Internal Medicine |
callnumber-label |
RC373 |
callnumber-sort |
RC 3373 K34 42022 |
illustrated |
Not Illustrated |
dewey-hundreds |
600 - Technology |
dewey-tens |
610 - Medicine & health |
dewey-ones |
616 - Diseases |
dewey-full |
616.85/3 |
dewey-sort |
3616.85 13 |
dewey-raw |
616.85/3 |
dewey-search |
616.85/3 |
work_keys_str_mv |
AT weckhuysensarah kcnq2andkcnq3associatedepilepsy AT georgealfredl kcnq2andkcnq3associatedepilepsy |
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(CKB)25292130600041 (NjHacI)9925292130600041 (UkCbUP)CR9781009278270 (EXLCZ)9925292130600041 |
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hierarchy_parent_title |
Cambridge elements. Elements in genetics in epilepsy, |
is_hierarchy_title |
KCNQ2- and KCNQ3-associated epilepsy / |
container_title |
Cambridge elements. Elements in genetics in epilepsy, |
author2_original_writing_str_mv |
noLinkedField noLinkedField |
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