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One source of phenotypic heterogeneity is modifier genes that affect expressivity of a primary pathogenic variant. Mouse epilepsy models also display varying degrees of clinical severity on different genetic backgrounds. Mice with heterozygous deletion of\n                    <jats:italic>Scn1a<\/jats:italic>\n                    (\n                    <jats:italic>Scn1a<\/jats:italic>\n                    <jats:sup>\n                      <jats:italic>+\/\u2212<\/jats:italic>\n                    <\/jats:sup>\n                    ) model Dravet syndrome, a severe epilepsy most often caused by\n                    <jats:italic>SCN1A<\/jats:italic>\n                    haploinsufficiency.\n                    <jats:italic>Scn1a<\/jats:italic>\n                    <jats:sup>\n                      <jats:italic>+\/\u2212<\/jats:italic>\n                    <\/jats:sup>\n                    mice recapitulate features of Dravet syndrome, including spontaneous seizures, sudden death, and cognitive\/behavioral deficits.\n                    <jats:italic>Scn1a<\/jats:italic>\n                    <jats:sup>\n                      <jats:italic>+\/\u2212<\/jats:italic>\n                    <\/jats:sup>\n                    mice maintained on the 129S6\/SvEvTac (129) strain have normal lifespan and no spontaneous seizures. In contrast, admixture with C57BL\/6J (B6) results in epilepsy and premature lethality. We previously mapped Dravet Survival Modifier loci (\n                    <jats:italic>Dsm1-Dsm5<\/jats:italic>\n                    ) responsible for strain-dependent differences in survival.\n                    <jats:italic>Gabra2<\/jats:italic>\n                    , encoding the GABA\n                    <jats:sub>A<\/jats:sub>\n                    \u03b12 subunit, was nominated as a candidate modifier at\n                    <jats:italic>Dsm1<\/jats:italic>\n                    . Direct measurement of GABA\n                    <jats:sub>A<\/jats:sub>\n                    receptors found lower abundance of \u03b12-containing receptors in hippocampal synapses of B6 mice relative to 129. We also identified a B6-specific single nucleotide deletion within\n                    <jats:italic>Gabra2<\/jats:italic>\n                    that lowers mRNA and protein by nearly 50%. Repair of this deletion reestablished normal levels of\n                    <jats:italic>Gabra2<\/jats:italic>\n                    expression\n                    <jats:italic>.<\/jats:italic>\n                    In this study, we used B6 mice with a repaired\n                    <jats:italic>Gabra2<\/jats:italic>\n                    allele to evaluate\n                    <jats:italic>Gabra2<\/jats:italic>\n                    as a genetic modifier of severity in\n                    <jats:italic>Scn1a<\/jats:italic>\n                    <jats:sup>\n                      <jats:italic>+\/\u2212<\/jats:italic>\n                    <\/jats:sup>\n                    mice.\n                    <jats:italic>Gabra2<\/jats:italic>\n                    repair restored transcript and protein expression, increased abundance of \u03b12-containing GABA\n                    <jats:sub>A<\/jats:sub>\n                    receptors in hippocampal synapses, and rescued epilepsy phenotypes of\n                    <jats:italic>Scn1a<\/jats:italic>\n                    <jats:sup>\n                      <jats:italic>+\/\u2212<\/jats:italic>\n                    <\/jats:sup>\n                    mice. These findings validate\n                    <jats:italic>Gabra2<\/jats:italic>\n                    as a genetic modifier of Dravet syndrome, and support enhancing function of \u03b1\n                    <jats:sub>2<\/jats:sub>\n                    -containing GABA\n                    <jats:sub>A<\/jats:sub>\n                    receptors as treatment strategy for Dravet syndrome.\n                  <\/jats:p>","DOI":"10.1007\/s00335-021-09877-1","type":"journal-article","created":{"date-parts":[[2021,6,4]],"date-time":"2021-06-04T05:03:03Z","timestamp":1622782983000},"page":"350-363","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":27,"title":["Gabra2 is a genetic modifier of Dravet syndrome in mice"],"prefix":"10.1007","volume":"32","author":[{"given":"Nicole A.","family":"Hawkins","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshihiro","family":"Nomura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samantha","family":"Duarte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Levi","family":"Barse","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert W.","family":"Williams","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gregg E.","family":"Homanics","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Megan K.","family":"Mulligan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anis","family":"Contractor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1726-4769","authenticated-orcid":false,"given":"Jennifer A.","family":"Kearney","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,6,4]]},"reference":[{"key":"9877_CR1","doi-asserted-by":"publisher","first-page":"683","DOI":"10.1007\/s00335-005-0049-4","volume":"16","author":"SK Bergren","year":"2005","unstructured":"Bergren SK, Chen S, Galecki A, Kearney JA (2005) Genetic modifiers affecting severity of epilepsy caused by mutation of sodium channel Scn2a. 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