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Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2018,6,12]]},"abstract":"<jats:title>Significance<\/jats:title>\n                  <jats:p>\n                    <jats:italic>SCN2A<\/jats:italic>\n                    , encoding the voltage-gated sodium channel Na\n                    <jats:sub>v<\/jats:sub>\n                    1.2, has emerged as a major gene implicated in neonatal-, infantile-, and even childhood-onset epilepsies. Many of these epilepsies are also associated with cognitive and behavioral impairments that range in type and severity. The biophysical, neurophysiological, and clinical impacts of\n                    <jats:italic>SCN2A<\/jats:italic>\n                    mutations are poorly understood. Here, we use clinical evaluation and biophysical analyses to explore the mechanisms underpinning distinctive phenotypes produced by\n                    <jats:italic>SCN2A<\/jats:italic>\n                    variants associated with mild familial or severe de novo forms of epilepsy. We show that dynamic clamp analysis provides clear benefits over conventional voltage clamp for a rapid and definitive prediction of neuron-scale phenotypic consequences, and is well positioned to impact diagnosis and drug discovery in genetic epilepsy.\n                  <\/jats:p>","DOI":"10.1073\/pnas.1800077115","type":"journal-article","created":{"date-parts":[[2018,5,29]],"date-time":"2018-05-29T11:38:29Z","timestamp":1527593909000},"update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":90,"title":["Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms of\n                    <i>SCN2A<\/i>\n                    epilepsy"],"prefix":"10.1073","volume":"115","author":[{"given":"G\u00e9za","family":"Berecki","sequence":"first","affiliation":[{"name":"Ion Channels and Disease Group, The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, VIC 3052, 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Pediatrics, University of California, San Francisco Benioff Children\u2019s Hospital, University of California, San Francisco, CA 94158;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Megan K.","family":"Oliva","sequence":"additional","affiliation":[{"name":"Ion Channels and Disease Group, The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, VIC 3052, Australia;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Kaplan","sequence":"additional","affiliation":[{"name":"Ion Channels and Disease Group, The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, VIC 3052, Australia;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrid E.","family":"Scheffer","sequence":"additional","affiliation":[{"name":"Ion Channels and Disease Group, The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, VIC 3052, 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