Excitatory and inhibitory neuron defects in a mouse model of Scn1b‐linked EIEE52

OBJECTIVE: Human variants in voltage‐gated sodium channel (VGSC) α and β subunit genes are linked to developmental and epileptic encephalopathies (DEEs). Inherited, biallelic, loss‐of‐function variants in SCN1B, encoding the β1/β1B subunits, are linked to early infantile DEE (EIEE52). De novo, monoa...

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Bibliografiske detaljer
Udgivet i:Ann Clin Transl Neurol
Main Authors: Hull, Jacob M., O’Malley, Heather A., Chen, Chunling, Yuan, Yukun, Denomme, Nicholas, Bouza, Alexandra A., Anumonwo, Charles, Lopez‐Santiago, Luis F., Isom, Lori L.
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2020
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Research Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7664274/
https://ncbi.nlm.nih.gov/pubmed/32979291
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.51205
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