{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T23:23:38Z","timestamp":1792193018576,"version":"4.4.0"},"reference-count":109,"publisher":"American Association for the Advancement of Science (AAAS)","issue":"828","funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["U54-NS108874"],"award-info":[{"award-number":["U54-NS108874"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["U54-NS108874"],"award-info":[{"award-number":["U54-NS108874"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["U54-NS108874"],"award-info":[{"award-number":["U54-NS108874"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["NS108874"],"award-info":[{"award-number":["NS108874"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["MH115045"],"award-info":[{"award-number":["MH115045"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["MH131719"],"award-info":[{"award-number":["MH131719"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["S10MH133644"],"award-info":[{"award-number":["S10MH133644"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["U54-NS108874"],"award-info":[{"award-number":["U54-NS108874"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100013113","name":"Stanley Center for Psychiatric Research, Broad Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100013113","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100013113","name":"Stanley Center for Psychiatric Research, Broad Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100013113","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100020816","name":"Instituto Humanize","doi-asserted-by":"publisher","award":["NS108874"],"award-info":[{"award-number":["NS108874"]}],"id":[{"id":"10.13039\/100020816","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100020816","name":"Instituto Humanize","doi-asserted-by":"publisher","award":["MH115045"],"award-info":[{"award-number":["MH115045"]}],"id":[{"id":"10.13039\/100020816","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100020816","name":"Instituto Humanize","doi-asserted-by":"publisher","award":["MH131719"],"award-info":[{"award-number":["MH131719"]}],"id":[{"id":"10.13039\/100020816","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["www.science.org"],"crossmark-restriction":true},"short-container-title":["Sci. Transl. Med."],"published-print":{"date-parts":[[2025,12,10]]},"abstract":"<jats:p>\n                    <jats:italic toggle=\"yes\">CACNA1A<\/jats:italic>\n                    encodes the \u03b11A subunit of the Ca\n                    <jats:sub>V<\/jats:sub>\n                    2.1 voltage\u2013gated calcium channel essential for neuronal excitability, neurotransmitter release, and calcium signaling in neurons. Pathogenic\n                    <jats:italic toggle=\"yes\">CACNA1A<\/jats:italic>\n                    variants are linked to diverse neurological and developmental disorders, including hemiplegic migraine, epilepsy, developmental delay, and ataxia. However, the contribution of\n                    <jats:italic toggle=\"yes\">CACNA1A<\/jats:italic>\n                    variants to neurodevelopmental disorders has been less well established. Clinical heterogeneity and the complex impact of missense variants on channel function have made genotype-phenotype relationships difficult to resolve. Here, we characterized the biophysical properties of 42 de novo\n                    <jats:italic toggle=\"yes\">CACNA1A<\/jats:italic>\n                    missense variants identified in a neurodevelopmental disorder cohort of over 31,000 individuals, alongside eight common variants from the general population. All but one de novo variant altered biophysical properties of the Ca\n                    <jats:sub>V<\/jats:sub>\n                    2.1 channel, with 50% abolishing measurable currents. Among variants with detectable currents, nearly half disrupted voltage-dependent gating, whereas common variants had no measurable effect. Similar results were obtained using representative variants in the presence of \u03b23 or \u03b24 auxiliary subunits. The expression of two selected variants in\n                    <jats:italic toggle=\"yes\">CACNA1A<\/jats:italic>\n                    -knockdown hiPSC-derived neurons confirmed similar functional alterations in human neurons. Simulations using the\n                    <jats:italic toggle=\"yes\">NEURON<\/jats:italic>\n                    model of a Purkinje neuron demonstrated that these biophysical changes profoundly affected excitability. Coupling functional data with AlphaMissense predictions, we found that Ca\n                    <jats:sub>V<\/jats:sub>\n                    2.1 missense variants contribute to the risk for developmental epileptic encephalopathy. Finally, correlating clinical features with molecular consequences of each variant revealed meaningful associations between specific channel dysfunctions and distinct clinical outcomes. These findings provide insights into\n                    <jats:italic toggle=\"yes\">CACNA1A<\/jats:italic>\n                    molecular pathology and highlight the potential for precision medicine treatment of\n                    <jats:italic toggle=\"yes\">CACNA1A<\/jats:italic>\n                    -associated disorders.\n                  <\/jats:p>","DOI":"10.1126\/scitranslmed.adr0024","type":"journal-article","created":{"date-parts":[[2025,12,10]],"date-time":"2025-12-10T18:58:18Z","timestamp":1765393098000},"update-policy":"https:\/\/doi.org\/10.34133\/aaas_crossmark","source":"Crossref","is-referenced-by-count":6,"title":["Characterization of the functional and clinical impacts of\n                    <i>CACNA1A<\/i>\n                    missense variants found in neurodevelopmental disorders"],"prefix":"10.1126","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4921-9161","authenticated-orcid":true,"given":"Erkin","family":"Kurganov","sequence":"first","affiliation":[{"name":"Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 75 Ames Street, Cambridge, MA 02142, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-3679-4569","authenticated-orcid":true,"given":"Lei","family":"Cui","sequence":"additional","affiliation":[{"name":"Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 75 Ames Street, Cambridge, MA 02142, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9010-6591","authenticated-orcid":true,"given":"Nikita","family":"Budnik","sequence":"additional","affiliation":[{"name":"Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 75 Ames Street, Cambridge, MA 02142, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1942-7381","authenticated-orcid":true,"given":"Siwei","family":"Chen","sequence":"additional","affiliation":[{"name":"Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 75 Ames Street, Cambridge, MA 02142, USA."},{"name":"Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114 USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2069-5789","authenticated-orcid":true,"given":"Erick","family":"Olivares","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, University of Texas at San Antonio, San Antonio, TX 78249, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2238-8486","authenticated-orcid":true,"given":"David","family":"Baez-Nieto","sequence":"additional","affiliation":[{"name":"Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 75 Ames Street, Cambridge, MA 02142, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmet S.","family":"Asan","sequence":"additional","affiliation":[{"name":"Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 75 Ames Street, Cambridge, MA 02142, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laina","family":"Lusk","sequence":"additional","affiliation":[{"name":"Epilepsy NeuroGenetics Initiative (ENGIN), Children\u2019s Hospital of Philadelphia, Philadelphia, PA 19104, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lacey","family":"Smith","sequence":"additional","affiliation":[{"name":"Harvard Medical School, Boston Children Hospital, Boston, MA 02115, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5555-6514","authenticated-orcid":true,"given":"Sooyeon","family":"Jo","sequence":"additional","affiliation":[{"name":"Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 75 Ames Street, Cambridge, MA 02142, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8897-6638","authenticated-orcid":true,"given":"Diogo","family":"Marques","sequence":"additional","affiliation":[{"name":"Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 75 Ames Street, Cambridge, MA 02142, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7215-3311","authenticated-orcid":true,"given":"Ralda","family":"Nehme","sequence":"additional","affiliation":[{"name":"Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 75 Ames Street, Cambridge, MA 02142, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0673-7084","authenticated-orcid":true,"given":"Sureni V.","family":"Mullegama","sequence":"additional","affiliation":[{"name":"GeneDX LLC, 207 Perry Parkway, Gaithersburg, MD 20877, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amanda","family":"Lindy","sequence":"additional","affiliation":[{"name":"GeneDX LLC, 207 Perry Parkway, Gaithersburg, MD 20877, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3993-966X","authenticated-orcid":true,"suffix":"Jr.","given":"Alfred L.","family":"George","sequence":"additional","affiliation":[{"name":"Department of Pharmacology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7350-5136","authenticated-orcid":true,"given":"Annapurna","family":"Poduri","sequence":"additional","affiliation":[{"name":"Harvard Medical School, Boston Children Hospital, Boston, MA 02115, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8486-0558","authenticated-orcid":true,"given":"Ingo","family":"Helbig","sequence":"additional","affiliation":[{"name":"Epilepsy NeuroGenetics Initiative (ENGIN), Children\u2019s Hospital of Philadelphia, Philadelphia, PA 19104, USA."},{"name":"Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0949-8752","authenticated-orcid":true,"given":"Mark","family":"Daly","sequence":"additional","affiliation":[{"name":"Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 75 Ames Street, Cambridge, MA 02142, USA."},{"name":"Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114 USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0767-086X","authenticated-orcid":true,"given":"Jen Q.","family":"Pan","sequence":"additional","affiliation":[{"name":"Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 75 Ames Street, Cambridge, MA 02142, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"221","reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2010.08.021"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1152\/physrev.00018.2002"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2014.03.016"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1111\/ene.13765"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.59.6.1016"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrn1102"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.4161\/chan.3.2.7932"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2020.10.004"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1007\/s12311-020-01185-9"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.19-05-01610.1999"},{"key":"e_1_3_2_12_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.273.10.5586"},{"key":"e_1_3_2_13_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M501110200"},{"key":"e_1_3_2_14_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.58.2.292"},{"key":"e_1_3_2_15_2","doi-asserted-by":"publisher","DOI":"10.3389\/fnmol.2023.1222321"},{"key":"e_1_3_2_16_2","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2021.639994"},{"key":"e_1_3_2_17_2","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.21"},{"key":"e_1_3_2_18_2","doi-asserted-by":"publisher","DOI":"10.1111\/epi.16316"},{"key":"e_1_3_2_19_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M502223200"},{"key":"e_1_3_2_20_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2009.01.027"},{"key":"e_1_3_2_21_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(01)05971-2"},{"key":"e_1_3_2_22_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0197-62"},{"key":"e_1_3_2_23_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2832-5"},{"key":"e_1_3_2_24_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awab443"},{"key":"e_1_3_2_25_2","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.16-01-00169.1996"},{"key":"e_1_3_2_26_2","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4939-7847-2_18"},{"key":"e_1_3_2_27_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2018.04.066"},{"key":"e_1_3_2_28_2","doi-asserted-by":"publisher","DOI":"10.1096\/fj.201801110RR"},{"key":"e_1_3_2_29_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awae330"},{"key":"e_1_3_2_30_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0707945104"},{"key":"e_1_3_2_31_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.23913"},{"key":"e_1_3_2_32_2","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.22-15-06362.2002"},{"key":"e_1_3_2_33_2","doi-asserted-by":"publisher","DOI":"10.3389\/fncel.2015.00047"},{"key":"e_1_3_2_34_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-8993(00)03206-6"},{"key":"e_1_3_2_35_2","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.3929-04.2005"},{"key":"e_1_3_2_36_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.adg7492"},{"key":"e_1_3_2_37_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41593-024-01747-8"},{"key":"e_1_3_2_38_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrneurol.2011.228"},{"key":"e_1_3_2_39_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13041-024-01152-z"},{"key":"e_1_3_2_40_2","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14358"},{"key":"e_1_3_2_41_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.0953-816x.2001.01566.x"},{"key":"e_1_3_2_42_2","doi-asserted-by":"publisher","DOI":"10.3390\/ijms22105180"},{"key":"e_1_3_2_43_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2013.10.044"},{"key":"e_1_3_2_44_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2014.07.016"},{"key":"e_1_3_2_45_2","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.neuro.31.060407.125606"},{"key":"e_1_3_2_46_2","doi-asserted-by":"publisher","DOI":"10.1242\/dmm.034181"},{"key":"e_1_3_2_47_2","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.2555-15.2016"},{"key":"e_1_3_2_48_2","doi-asserted-by":"publisher","DOI":"10.1152\/jn.00129.2014"},{"key":"e_1_3_2_49_2","doi-asserted-by":"publisher","DOI":"10.1093\/braincomms\/fcaa027"},{"key":"e_1_3_2_50_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81381-1"},{"key":"e_1_3_2_51_2","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.21-04-01169.2001"},{"key":"e_1_3_2_52_2","doi-asserted-by":"publisher","DOI":"10.1007\/s003359900369"},{"key":"e_1_3_2_53_2","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.20-15-05654.2000"},{"key":"e_1_3_2_54_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(04)00085-6"},{"key":"e_1_3_2_55_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2015.10.014"},{"key":"e_1_3_2_56_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21815"},{"key":"e_1_3_2_57_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.1031"},{"key":"e_1_3_2_58_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-022-12789-y"},{"key":"e_1_3_2_59_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.radcr.2021.02.052"},{"key":"e_1_3_2_60_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41592-023-02076-7"},{"key":"e_1_3_2_61_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.adj8672"},{"key":"e_1_3_2_62_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37678"},{"key":"e_1_3_2_63_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62960"},{"key":"e_1_3_2_64_2","doi-asserted-by":"publisher","DOI":"10.1177\/08830738030180030701"},{"key":"e_1_3_2_65_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.52.9.1816"},{"key":"e_1_3_2_66_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-017-02554-x"},{"key":"e_1_3_2_67_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.55.7.1040"},{"key":"e_1_3_2_68_2","doi-asserted-by":"publisher","DOI":"10.1085\/jgp.20028605"},{"key":"e_1_3_2_69_2","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.3213"},{"key":"e_1_3_2_70_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkv332"},{"key":"e_1_3_2_71_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-023-06045-0"},{"key":"e_1_3_2_72_2","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14180"},{"key":"e_1_3_2_73_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-017-8494-z"},{"key":"e_1_3_2_74_2","doi-asserted-by":"publisher","DOI":"10.1177\/0883073809351316"},{"key":"e_1_3_2_75_2","doi-asserted-by":"publisher","DOI":"10.1177\/2329048X221094977"},{"key":"e_1_3_2_76_2","doi-asserted-by":"publisher","DOI":"10.1177\/0333102416668655"},{"key":"e_1_3_2_77_2","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2022.869210"},{"key":"e_1_3_2_78_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroscience.2019.08.016"},{"key":"e_1_3_2_79_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awx081"},{"key":"e_1_3_2_80_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature12439"},{"key":"e_1_3_2_81_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.06.003"},{"key":"e_1_3_2_82_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004399900101"},{"key":"e_1_3_2_83_2","doi-asserted-by":"publisher","DOI":"10.1002\/mdc3.13086"},{"key":"e_1_3_2_84_2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.186"},{"key":"e_1_3_2_85_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-021-10897-9"},{"key":"e_1_3_2_86_2","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.14261"},{"key":"e_1_3_2_87_2","doi-asserted-by":"publisher","DOI":"10.3389\/fnmol.2021.699574"},{"key":"e_1_3_2_88_2","doi-asserted-by":"publisher","DOI":"10.3390\/jcm9113724"},{"key":"e_1_3_2_89_2","doi-asserted-by":"publisher","DOI":"10.1161\/STROKEAHA.110.600023"},{"key":"e_1_3_2_90_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000138571.48593.FC"},{"key":"e_1_3_2_91_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.mayocp.2015.12.018"},{"key":"e_1_3_2_92_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2021.05.010"},{"key":"e_1_3_2_93_2","doi-asserted-by":"publisher","DOI":"10.3390\/genes13050872"},{"key":"e_1_3_2_94_2","first-page":"251581631988163","article-title":"Targeted next generation sequencing identifies a genetic spectrum of DNA variants in patients with hemiplegic migraine","volume":"2","author":"Maksemous N.","year":"2019","unstructured":"N. Maksemous, R. A. Smith, H. G. Sutherland, B. H. Maher, O. Ibrahim, G. A. Nicholson, E. P. Carpenter, R. A. Lea, M. Z. Cader, L. R. Griffiths, Targeted next generation sequencing identifies a genetic spectrum of DNA variants in patients with hemiplegic migraine. Cephalalgia Rep. 2, 251581631988163 (2019).","journal-title":"Cephalalgia Rep."},{"key":"e_1_3_2_95_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2009.03493.x"},{"key":"e_1_3_2_96_2","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.14985"},{"key":"e_1_3_2_97_2","doi-asserted-by":"publisher","DOI":"10.1177\/0883073815627880"},{"key":"e_1_3_2_98_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-013-0375-8"},{"key":"e_1_3_2_99_2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.148"},{"key":"e_1_3_2_100_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2013.04.011"},{"key":"e_1_3_2_101_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2017.03.008"},{"key":"e_1_3_2_102_2","doi-asserted-by":"publisher","DOI":"10.1159\/000512275"},{"key":"e_1_3_2_103_2","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.13033"},{"key":"e_1_3_2_104_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2005.10.007"},{"key":"e_1_3_2_105_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2016.11.005"},{"key":"e_1_3_2_106_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-018-0089-2"},{"key":"e_1_3_2_107_2","doi-asserted-by":"publisher","DOI":"10.3390\/brainsci11070936"},{"key":"e_1_3_2_108_2","doi-asserted-by":"publisher","DOI":"10.1186\/s12920-020-0726-x"},{"key":"e_1_3_2_109_2","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2020.577544"},{"key":"e_1_3_2_110_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41390-019-0611-5"}],"container-title":["Science Translational Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.science.org\/doi\/pdf\/10.1126\/scitranslmed.adr0024","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,10]],"date-time":"2025-12-10T18:58:35Z","timestamp":1765393115000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.science.org\/doi\/10.1126\/scitranslmed.adr0024"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12,10]]},"references-count":109,"journal-issue":{"issue":"828","published-print":{"date-parts":[[2025,12,10]]}},"alternative-id":["10.1126\/scitranslmed.adr0024"],"URL":"https:\/\/doi.org\/10.1126\/scitranslmed.adr0024","relation":{},"ISSN":["1946-6234","1946-6242"],"issn-type":[{"value":"1946-6234","type":"print"},{"value":"1946-6242","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,12,10]]},"assertion":[{"value":"2024-06-11","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-05-15","order":1,"name":"revised","label":"Revised","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-11-12","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-12-10","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"eadr0024"}}