Article
Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms of SCN2A epilepsy.
Proceedings of the National Academy of Sciences of the United States of America - 12 Jun 2018
Berecki Géza, Howell Katherine B, Deerasooriya Yadeesha H, Cilio Maria Roberta, Oliva Megan K, Kaplan David, Scheffer Ingrid E, Berkovic Samuel F, Petrou Steven
Abstract excerpt
De novo variants in SCN2A developmental and epileptic encephalopathy (DEE) show distinctive genotype-phenotype correlations. The two most recurrent SCN2A variants in DEE, R1882Q and R853Q, are associated with different ages and seizure types at onset. R1882Q presents on day 1 of life with focal seizures, while infantile spasms is the dominant seizure type seen in R853Q cases, presenting at a median age of 8...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.