Concepedia

4-Aminopyridine is a promising treatment option for patients with gain-of-function <i>KCNA2</i> -encephalopathy

Ulrike B. S. Hedrich, Stephan Lauxmann, Markus Wolff, Matthis Synofzik, Thomas Bast, Adrian Binelli, José M. Serratosa, Pedro Martínez-Ulloa, Nicholas M. Allen, Mary D. King,

Science Translational Medicine · 2021 · 83 citations · 53 references

DOI

Concepts

Abstract

-(gain-of-function)–encephalopathy and provide an online tool assisting physicians to select patients with gain-of-function mutations suited to this treatment.

References

53

Early Identification of Refractory Epilepsy

Patrick Kwan, Martin J. Brodie · New England Journal of Medicine · 2000 · 5.2K citations · Full text

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<scp>ILAE</scp> classification of the epilepsies: Position paper of the <scp>ILAE</scp> Commission for Classification and Terminology

Ingrid E. Scheffer, Samuel F. Berkovic, Giuseppe Capovilla et al. · Epilepsia · 2017 · 4.9K citations · Full text

, , +14

Operational classification of seizure types by the International League Against Epilepsy: Position Paper of the ILAE Commission for Classification and Terminology

Robert S. Fisher, J. Helen Cross, Jacqueline A. French et al. · Epilepsia · 2017 · 3.4K citations · Full text

, , +15

Linking Clinical Variables With Health-Related Quality of Life

Ira B. Wilson · JAMA · 1995 · 3K citations

, , +16

Linking clinical variables with health-related quality of life. A conceptual model of patient outcomes

Ira B. Wilson · JAMA · 1995 · 2.8K citations

, , +16