Elements in Genetics in Epilepsy – serie
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4 produkter
How We Got to Where We're Going
Av Annapurna H. Poduri, Alfred L. George Jr m. fl.
Häftad, 2021
308 kr
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This Element serves as a welcome to the Cambridge Elements Genetics in Epilepsy series. The series editors look forward to sharing with you the story of epilepsy genetics through a series of Elements. They will bring together many voices, by text as well as video, to illustrate the history of …
KCNQ2- and KCNQ3-Associated Epilepsy
Av Sarah Weckhuysen, Alfred L. George, Jr
Häftad, 2022
317 kr
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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 …
SCN2A-Related Disorders
Av Megan Abbott, Kevin J. Bender m. fl.
Inbunden, 2025
938 kr
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SCN2A encodes a voltage-gated sodium channel (designated NaV1.2) vital for generating neuronal action potentials. Pathogenic SCN2A variants are associated with a diverse array of neurodevelopmental disorders featuring neonatal or infantile onset epilepsy, developmental delay, autism, intellectual …
SCN2A-Related Disorders
Av Megan Abbott, Kevin J. Bender m. fl.
Häftad, 2025
317 kr
Lägg i varukorg
SCN2A encodes a voltage-gated sodium channel (designated NaV1.2) vital for generating neuronal action potentials. Pathogenic SCN2A variants are associated with a diverse array of neurodevelopmental disorders featuring neonatal or infantile onset epilepsy, developmental delay, autism, intellectual …