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Phenotypes include benign (self\u2010limited) neonatal and infantile epilepsy and more severe developmental and epileptic encephalopathies also presenting in early infancy. There is increasing evidence that an important phenotype linked to the gene is autism and intellectual disability without epilepsy or with rare seizures in later childhood. Other associations of\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">SCN<\/jats:styled-content>\n                      2A\n                    <\/jats:italic>\n                    include the movement disorders chorea and episodic ataxia. It is likely that as genetic testing enters mainstream practice that new phenotypic associations will be identified. Some missense, gain of function variants tend to present in early infancy with epilepsy, whereas other missense or truncating, loss of function variants present with later\u2010onset epilepsies or intellectual disability only. Knowledge of both mutation type and functional consequences can guide precision therapy. Sodium channel blockers may be effective antiepileptic medications in gain of function, neonatal and infantile presentations.\n                  <\/jats:p>","DOI":"10.1111\/epi.14935","type":"journal-article","created":{"date-parts":[[2020,1,6]],"date-time":"2020-01-06T07:23:36Z","timestamp":1578295416000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":90,"title":["Phenotypic spectrum and genetics of\n                    <i>\n                      <scp>SCN<\/scp>\n                      2A\n                    <\/i>\n                    \u2010related disorders, treatment options, and outcomes in epilepsy and beyond"],"prefix":"10.1111","volume":"60","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5640-0888","authenticated-orcid":false,"given":"Markus","family":"Wolff","sequence":"first","affiliation":[{"name":"Pediatric Neurology Vivantes Hospital Neukoelln Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Brunklaus","sequence":"additional","affiliation":[{"name":"Paediatric Neurosciences Research Group Royal Hospital for Children &amp; School of Medicine University of Glasgow Glasgow UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sameer M.","family":"Zuberi","sequence":"additional","affiliation":[{"name":"Paediatric Neurosciences Research Group Royal Hospital for Children &amp; School of Medicine University of Glasgow Glasgow 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