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A third family, of Western European descent, included a child with febrile infection\u2010related epilepsy syndrome (<jats:styled-content style=\"fixed-case\">FIRES<\/jats:styled-content>) who also had compound heterozygous missense mutations in <jats:italic><jats:styled-content style=\"fixed-case\">SCN<\/jats:styled-content>10A<\/jats:italic>, namely, c.3482T&gt;C; p.Met1161Thr and c.4709C&gt;A; p.Thr1570Lys. A search for <jats:italic><jats:styled-content style=\"fixed-case\">SCN<\/jats:styled-content>10A<\/jats:italic> variants in three consortia datasets (Euro<jats:styled-content style=\"fixed-case\">EPINOMICS<\/jats:styled-content>, Epi4K\/<jats:styled-content style=\"fixed-case\">EPGP<\/jats:styled-content>, Autism\/dbGaP) identified an additional five individuals with compound heterozygous variants. A Hispanic male with infantile spasms [c.2842G&gt;C; p.Val948Leu and c.1453C&gt;T; p.Arg485Cys], and a Caucasian female with Lennox\u2013Gastaut syndrome [c.1529C&gt;T; p.Pro510Leu and c.4984G&gt;A; p.Gly1662Ser] in the epilepsy databases and three in the autism databases with [c.4009T&gt;A; p.Ser1337Thr and c.1141A&gt;G; p.Ile381Val], [c.2972C&gt;T; p.Pro991Leu and c.2470C&gt;T; p.His824Tyr], and [c.4009T&gt;A; p.Ser1337Thr and c.2052G&gt;A; p.Met684Ile].<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p><jats:italic><jats:styled-content style=\"fixed-case\">SCN<\/jats:styled-content>10A<\/jats:italic> is a member of the voltage\u2010gated sodium channel (<jats:styled-content style=\"fixed-case\">VGSC<\/jats:styled-content>) gene family. Sodium channels are responsible for the instigation and proliferation of action potentials in central and peripheral nervous systems. Heterozygous mutations in <jats:styled-content style=\"fixed-case\">VGSC<\/jats:styled-content> genes cause a wide range of epileptic and peripheral nervous system disorders. This report presents autosomal recessive mutations in <jats:italic><jats:styled-content style=\"fixed-case\">SCN<\/jats:styled-content>10A<\/jats:italic> that may be linked to epilepsy\u2010related phenotypes, Lennox\u2013Gastaut syndrome, infantile spasms, and Autism Spectrum Disorder.<\/jats:p><\/jats:sec>","DOI":"10.1002\/acn3.372","type":"journal-article","created":{"date-parts":[[2016,12,20]],"date-time":"2016-12-20T08:52:48Z","timestamp":1482223968000},"page":"26-35","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["Biallelic <i><scp>SCN<\/scp>10A<\/i> mutations in neuromuscular disease and epileptic encephalopathy"],"prefix":"10.1002","volume":"4","author":[{"given":"Marios","family":"Kambouris","sequence":"first","affiliation":[{"name":"Pathology\u2010Genetics Sidra Medical and Research Center Doha Qatar"},{"name":"Qatar Biomedical Research Institute Medical Genetics Center Hamad Bin Khalifa University Doha 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