Hoppa till sidans huvudinnehåll

Del 0

KCNQ2- and KCNQ3-Associated Epilepsy

Häftad, Engelska, 2022

AvSarah Weckhuysen,Alfred L. George, Jr,Jr. George, Alfred L.,Alfred L. George Jr.,Alfred L George

299 kr

Beställningsvara. Skickas inom 7-10 vardagar. Fri frakt för medlemmar vid köp för minst 249 kr.

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.

Produktinformation

  • Utgivningsdatum2022-12-01
  • Mått152 x 228 x 7 mm
  • Vikt180 g
  • FormatHäftad
  • SpråkEngelska
  • SerieElements in Genetics in Epilepsy
  • Antal sidor110
  • FörlagCambridge University Press
  • ISBN9781009278263

Tillhör följande kategorier

Hoppa över listan

Du kanske också är intresserad av

SCN2A-Related Disorders

Megan Abbott, Kevin J. Bender, Andreas Brunklaus, Scott Demarest, Shawn Egan, Isabel Haviland, Jennifer A. Kearney, Leah Schust Myers, Heather E. Olson, Stephan J. Sanders, Christina SanInocencio, Joseph Symonds, Christopher H. Thompson, Megan (University of Colorado School of Medicine) Abbott, San Francisco) Bender, Kevin J. (University of California, Andreas (Royal Hospital for Children and University of Glasgow) Brunklaus, Scott (University of Colorado School of Medicine) Demarest, Shawn (FamilieSCN2A Foundation) Egan, Isabel (Boston Children’s Hospital and Harvard Medical School) Haviland, Jennifer A. (Northwestern University Feinberg School of Medicine) Kearney, Leah (FamilieSCN2A Foundation) Schust Myers, Heather E. (Boston Children's Hospital and Harvard Medical School) Olson, Alfred L. George, Jr., Alfred L. (Northwestern University Feinberg School of Medicine) George, Jr., Jr. George, Alfred L., Jr. Alfred L. George

Inbunden

969 kr

SCN2A-Related Disorders

Megan Abbott, Kevin J. Bender, Andreas Brunklaus, Scott Demarest, Shawn Egan, Isabel Haviland, Jennifer A. Kearney, Leah Schust Myers, Heather E. Olson, Stephan J. Sanders, Christina SanInocencio, Joseph Symonds, Christopher H. Thompson, Megan (University of Colorado School of Medicine) Abbott, San Francisco) Bender, Kevin J. (University of California, Andreas (Royal Hospital for Children and University of Glasgow) Brunklaus, Scott (University of Colorado School of Medicine) Demarest, Shawn (FamilieSCN2A Foundation) Egan, Isabel (Boston Children’s Hospital and Harvard Medical School) Haviland, Jennifer A. (Northwestern University Feinberg School of Medicine) Kearney, Leah (FamilieSCN2A Foundation) Schust Myers, Heather E. (Boston Children's Hospital and Harvard Medical School) Olson, Alfred L. George, Jr., Alfred L. (Northwestern University Feinberg School of Medicine) George, Jr., Jr. George, Alfred L., Jr. Alfred L. George

Häftad

299 kr

How We Got to Where We're Going

Annapurna H. Poduri, Alfred L. George Jr, Erin L. Heinzen, Daniel Lowenstein, Sara James, Jr. George, Alfred L., Alfred L. George, Jr., Jr. Alfred L. George

Häftad

299 kr

  • Nyhet
Del 4

Sot

Sara Strömberg

Storpocket

139 kr179 kr

  • Nyhet
Del 4

Nattjägaren

Anders de la Motte

Storpocket

139 kr179 kr