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Auditory brainstem response (ABR) showed bilateral hearing loss. Epilepsy was refractory and the patient had virtually no development. Administration of fenfluramine resulted in a significant reduction in seizure frequency and resolution of SE episodes that persisted after a 2\u2010year follow\u2010up. The patient phenotype is more compatible with early infantile developmental and epileptic encephalopathy (DEE) than with typical Dravet syndrome (DS), as previously diagnosed for other patients with homozygous\n                      <jats:italic>SCN1B<\/jats:italic>\n                      variants. Biochemical and electrophysiological analyses of the\n                      <jats:italic>SCN1B<\/jats:italic>\n                      variant expressed in heterologous cells showed cell surface expression of the mutant\n                      <jats:italic>\u03b2<\/jats:italic>\n                      1 subunit, similar to wild\u2010type (WT), but with loss of normal\n                      <jats:italic>\u03b2<\/jats:italic>\n                      1\u2010mediated modification of human Na\n                      <jats:sub>v<\/jats:sub>\n                      1.1\u2010generated sodium current, suggesting that\n                      <jats:italic>SCN1B<\/jats:italic>\n                      \u2010p.Arg85Cys is a loss\u2010of\u2010function (LOF) variant.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Interpretation<\/jats:title>\n                    <jats:p>\n                      Importantly, a review of the literature in light of our results suggests that the term, early infantile developmental and epileptic encephalopathy, is more appropriate than either EIEE or DS to describe biallelic\n                      <jats:italic>SCN1B<\/jats:italic>\n                      patients.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/acn3.50921","type":"journal-article","created":{"date-parts":[[2019,11,11]],"date-time":"2019-11-11T03:40:41Z","timestamp":1573443641000},"page":"2354-2367","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":48,"title":["<i>SCN1B<\/i>\n                    \u2010linked early infantile developmental and epileptic encephalopathy"],"prefix":"10.1002","volume":"6","author":[{"given":"Alec","family":"Aeby","sequence":"first","affiliation":[{"name":"Pediatric Neurology Queen Fabiola Children Hospital ULB Brussels Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudine","family":"Sculier","sequence":"additional","affiliation":[{"name":"Pediatric Neurology ULB\u2010H\u00f4pital Erasme Brussels Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra A.","family":"Bouza","sequence":"additional","affiliation":[{"name":"Department of Pharmacology University of Michigan Medical School Ann Arbor MI 48109"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brandon","family":"Askar","sequence":"additional","affiliation":[{"name":"Department of Pharmacology University of Michigan Medical School Ann Arbor MI 48109"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Damien","family":"Lederer","sequence":"additional","affiliation":[{"name":"Centre for Human Genetics IPG Charleroi Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne\u2010Sofie","family":"Schoonjans","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Universiteit Antwerpen (UA) Antwerp Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"Vander Ghinst","sequence":"additional","affiliation":[{"name":"ENT Department ULB\u2010H\u00f4pital Erasme Universit\u00e9 libre de Bruxelles (ULB) Brussels Belgium"},{"name":"Laboratoire de Cartographie fonctionnelle du Cerveau UNI \u2013 ULB Neuroscience Institute Universit\u00e9 libre de Bruxelles (ULB) Brussels Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Berten","family":"Ceulemans","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Universiteit Antwerpen (UA) Antwerp Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Offord","sequence":"additional","affiliation":[{"name":"Department of Pharmacology University of Michigan Medical School Ann Arbor MI 48109"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luis F.","family":"Lopez\u2010Santiago","sequence":"additional","affiliation":[{"name":"Department of Pharmacology University of Michigan Medical School Ann Arbor MI 48109"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9479-6729","authenticated-orcid":false,"given":"Lori L.","family":"Isom","sequence":"additional","affiliation":[{"name":"Department of Pharmacology University of Michigan Medical School Ann Arbor MI 48109"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,11,11]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.2011.224204"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.78.7.4620"},{"key":"e_1_2_8_4_1","doi-asserted-by":"crossref","first-page":"10597","DOI":"10.1016\/S0021-9258(19)85127-X","article-title":"The sodium channel from rat brain. 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