LEADER 00000nam  22005418i 4500 
001    on1344427134 
003    OCoLC 
005    20221110213016.0 
006    m     o  d         
007    cr ||||||||||| 
008    220801s2022    enk     ob    000 0 eng   
010      2022036492 
020    9781009278270|q(ebook) 
020    1009278274 
020    |z9781009278263|q(paperback) 
035    (OCoLC)1344427134 
040    DLC|beng|erda|cDLC 
042    pcc 
049    STJJ 
050 00 RC373 
060 00 WL 385 
082 00 616.85/3|223/eng/20220914 
245 00 KCNQ2- and KCNQ3-associated epilepsy /|cedited by Sarah 
       Weckhuysen, Alfred L. George. 
263    2211 
264  1 Cambridge, United Kingdom ;|aNew York, NY :|bCambridge 
       University Press,|c2022. 
300    1 online resource. 
336    text|btxt|2rdacontent 
337    computer|bc|2rdamedia 
338    online resource|bcr|2rdacarrier 
490 1  Elements in genetics in epilepsy,|x2633-2078 
504    Includes bibliographical references. 
505 0  Patient, family and foundation perspectives -- Basic 
       science of KCNQ2 and KCNQ3 -- Genotype-phenotype 
       correlations -- Treatment of KCNQ2-associated epilepsies. 
520    "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"--
       |cProvided by publisher. 
588    Description based on print version record and CIP data 
       provided by publisher; resource not viewed. 
590    Cambridge University Press|bCambridge Open Access Books 
       and Elements 
650 12 Epilepsy, Benign Neonatal|xgenetics. 
650 12 Epilepsy, Benign Neonatal|xetiology. 
650 22 KCNQ2 Potassium Channel|xmetabolism. 
650 22 KCNQ3 Potassium Channel|xmetabolism. 
700 1  Weckhuysen, Sarah,|eeditor. 
700 1  George, Alfred L.,|eeditor. 
776 08 |iPrint version:|tKCNQ2- and KCNQ3-associated epilepsy
       |dCambridge, United Kingdom ; New York, NY : Cambridge 
       University Press, 2022|z9781009278263|w(DLC)  2022036491 
830  0 Elements in genetics in epilepsy.|x2633-2078 
914    on1344427134 
947    MARCIVE Processed 2023/02/10 
994    92|bSTJ