{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,5]],"date-time":"2026-11-05T17:28:01Z","timestamp":1793899681973,"version":"4.8.0"},"reference-count":87,"publisher":"Springer Science and Business Media LLC","issue":"10","license":[{"start":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T00:00:00Z","timestamp":1789171200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T00:00:00Z","timestamp":1789171200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/100000005","name":"U.S. Department of Defense","doi-asserted-by":"publisher","award":["W81XWH-19-1-0098"],"award-info":[{"award-number":["W81XWH-19-1-0098"]}],"id":[{"id":"10.13039\/100000005","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000005","name":"U.S. Department of Defense","doi-asserted-by":"publisher","award":["PR180286"],"award-info":[{"award-number":["PR180286"]}],"id":[{"id":"10.13039\/100000005","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["APP1122387"],"award-info":[{"award-number":["APP1122387"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Queensland University of Technology","id":[{"id":"https:\/\/ror.org\/03pnv4752","id-type":"ROR","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Neurol"],"published-print":{"date-parts":[[2026,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Some individuals appear more susceptible to concussion or mild traumatic brain injury (mTBI) and the severity, range, and the persistence of post-concussion symptoms vary considerably between affected individuals. Genetic factors are likely to contribute to this variability. Symptomatic overlap of post-concussion syndrome with neurological conditions such as familial hemiplegic migraine (FHM) caused by rare pathogenic variants in ion channel and synapse protein genes, with high sensitivity to head trauma for some patients, suggests that variation in similar pathways may influence concussion susceptibility and recovery. To investigate this hypothesis, we performed whole exome sequencing in 93 unrelated individuals who had sustained a single or multiple concussions and examined rare protein-altering variants in FHM genes, other neuronal ion channel and transporter genes, and genes involved in neurotransmission. We identified 62 different rare missense variants across 24 genes in 59 participants (63%), with 26 individuals carrying 2 or more variants. The prevalence of specific likely damaging rare variants in the 16 ion channel-related genes that were identified was approximately fivefold higher than that observed from gnomAD population controls (Odds Ratio = 5.44, 95% CI [4.13,7.18],\n                    <jats:italic>P<\/jats:italic>\n                    &lt; 0.0001). Notably, voltage-gated calcium and sodium channel genes, including\n                    <jats:italic>SCN9A<\/jats:italic>\n                    , together with neurotransmission-related genes such as\n                    <jats:italic>SNCAIP<\/jats:italic>\n                    , harboured multiple potentially deleterious variants. These findings suggest that rare deleterious variants in genes involved in ion homeostasis and neurotransmission may contribute to an individual\u2019s susceptibility to concussion or more severe post-concussion symptoms. This study provides a foundation for future genetic and functional investigations aimed at improving our understanding of concussion susceptibility and outcomes. Further validation in larger cohorts and mechanistic studies is warranted to determine their utility as biomarkers of concussion risk and prognosis.\n                  <\/jats:p>","DOI":"10.1007\/s00415-026-14139-8","type":"journal-article","created":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T08:11:13Z","timestamp":1789200673000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Investigating genetic susceptibility to concussion through rare variants in ion channel and neurotransmission genes"],"prefix":"10.1007","volume":"273","author":[{"given":"Bridget H.","family":"Maher","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neven","family":"Maksemous","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heidi G.","family":"Sutherland","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert A.","family":"Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Omar","family":"Dabash","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annette","family":"Greenhow","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatima A.","family":"Nasralla","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dale R.","family":"Nyholt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arn M. J. M.","family":"van den Maagdenberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rodney A.","family":"Lea","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6774-5475","authenticated-orcid":false,"given":"Lyn R.","family":"Griffiths","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,9,12]]},"reference":[{"issue":"1","key":"14139_CR1","doi-asserted-by":"publisher","DOI":"10.2217\/cnc-2016-0018","volume":"2","author":"V Rao","year":"2017","unstructured":"Rao V, Syeda A, Roy D, Peters ME, Vaishnavi S (2017) Neuropsychiatric aspects of concussion: acute and chronic sequelae. Concussion (Auckl) 2(1):CNC29. https:\/\/doi.org\/10.2217\/cnc-2016-0018","journal-title":"Concussion (Auckl)"},{"issue":"1","key":"14139_CR2","doi-asserted-by":"publisher","first-page":"32","DOI":"10.2340\/16501977-2492","volume":"51","author":"J Ponsford","year":"2019","unstructured":"Ponsford J, Nguyen S, Downing M, Bosch M, McKenzie JE, Turner S, Chau M, Mortimer D, Gruen RL, Knott J, Green S (2019) Factors associated with persistent post-concussion symptoms following mild traumatic brain injury in adults. J Rehabil Med 51(1):32\u201339. https:\/\/doi.org\/10.2340\/16501977-2492","journal-title":"J Rehabil Med"},{"issue":"11","key":"14139_CR3","doi-asserted-by":"publisher","first-page":"695","DOI":"10.1136\/bjsports-2023-106898","volume":"57","author":"JS Patricios","year":"2023","unstructured":"Patricios JS, Schneider KJ, Dvorak J, Ahmed OH, Blauwet C, Cantu RC, Davis GA, Echemendia RJ, Makdissi M, McNamee M, Broglio S, Emery CA, Feddermann-Demont N, Fuller GW, Giza CC, Guskiewicz KM, Hainline B, Iverson GL, Kutcher JS, Leddy JJ, Maddocks D, Manley G, McCrea M, Purcell LK, Putukian M, Sato H, Tuominen MP, Turner M, Yeates KO, Herring SA, Meeuwisse W (2023) Consensus statement on concussion in sport: the 6th international conference on concussion in sport-Amsterdam, October 2022. Br J Sports Med 57(11):695\u2013711. https:\/\/doi.org\/10.1136\/bjsports-2023-106898","journal-title":"Br J Sports Med"},{"issue":"9","key":"14139_CR4","doi-asserted-by":"publisher","first-page":"1397","DOI":"10.1111\/head.13396","volume":"58","author":"L Howard","year":"2018","unstructured":"Howard L, Dumkrieger G, Chong CD, Ross K, Berisha V, Schwedt TJ (2018) Symptoms of autonomic dysfunction among those with persistent posttraumatic headache attributed to mild traumatic brain injury: a comparison to migraine and healthy controls. Headache 58(9):1397\u20131407. https:\/\/doi.org\/10.1111\/head.13396","journal-title":"Headache"},{"issue":"1","key":"14139_CR5","doi-asserted-by":"publisher","first-page":"14","DOI":"10.1017\/cjn.2018.361","volume":"46","author":"C Mares","year":"2019","unstructured":"Mares C, Dagher JH, Harissi-Dagher M (2019) Narrative review of the pathophysiology of headaches and photosensitivity in mild traumatic brain injury and concussion. Can J Neurol Sci 46(1):14\u201322. https:\/\/doi.org\/10.1017\/cjn.2018.361","journal-title":"Can J Neurol Sci"},{"issue":"7","key":"14139_CR6","doi-asserted-by":"publisher","first-page":"701","DOI":"10.1177\/0333102419896754","volume":"40","author":"H McEvoy","year":"2020","unstructured":"McEvoy H, Borsook D, Holmes SA (2020) Clinical features and sex differences in pediatric post-traumatic headache: a retrospective chart review at a Boston area concussion clinic. Cephalalgia 40(7):701\u2013711. https:\/\/doi.org\/10.1177\/0333102419896754","journal-title":"Cephalalgia"},{"issue":"13","key":"14139_CR7","doi-asserted-by":"publisher","first-page":"2093","DOI":"10.1089\/neu.2016.4833","volume":"34","author":"WJ Panenka","year":"2017","unstructured":"Panenka WJ, Gardner AJ, Dretsch MN, Crynen GC, Crawford FC, Iverson GL (2017) Systematic review of genetic risk factors for sustaining a mild traumatic brain injury. J Neurotrauma 34(13):2093\u20132099. https:\/\/doi.org\/10.1089\/neu.2016.4833","journal-title":"J Neurotrauma"},{"issue":"4","key":"14139_CR8","doi-asserted-by":"publisher","first-page":"424","DOI":"10.1177\/1073858414543150","volume":"21","author":"J Davidson","year":"2015","unstructured":"Davidson J, Cusimano MD, Bendena WG (2015) Post-traumatic brain injury: genetic susceptibility to outcome. Neuroscientist 21(4):424\u2013441. https:\/\/doi.org\/10.1177\/1073858414543150","journal-title":"Neuroscientist"},{"key":"14139_CR9","doi-asserted-by":"publisher","DOI":"10.3390\/sports9020019","author":"MR Antrobus","year":"2021","unstructured":"Antrobus MR, Brazier J, Stebbings GK, Day SH, Heffernan SM, Kilduff LP, Erskine RM, Williams AG (2021) Genetic factors that could affect concussion risk in elite rugby. Sports. https:\/\/doi.org\/10.3390\/sports9020019","journal-title":"Sports"},{"issue":"1","key":"14139_CR10","doi-asserted-by":"publisher","first-page":"89","DOI":"10.1017\/S1355617715001022","volume":"22","author":"VC Merritt","year":"2016","unstructured":"Merritt VC, Arnett PA (2016) Apolipoprotein E (APOE) \u03f54 allele is associated with increased symptom reporting following sports concussion. J Int Neuropsychol Soc 22(1):89\u201394. https:\/\/doi.org\/10.1017\/S1355617715001022","journal-title":"J Int Neuropsychol Soc"},{"issue":"2","key":"14139_CR11","doi-asserted-by":"publisher","first-page":"125","DOI":"10.1097\/JSM.0000000000000443","volume":"28","author":"GD Cochrane","year":"2018","unstructured":"Cochrane GD, Sundman MH, Hall EE, Kostek MC, Patel K, Barnes KP, Ketcham CJ (2018) Genetics influence neurocognitive performance at baseline but not concussion history in collegiate student-athletes. Clin J Sport Med 28(2):125\u2013129. https:\/\/doi.org\/10.1097\/JSM.0000000000000443","journal-title":"Clin J Sport Med"},{"issue":"4","key":"14139_CR12","doi-asserted-by":"publisher","first-page":"322","DOI":"10.1097\/JSM.0b013e31817e6f3e","volume":"18","author":"VL Kristman","year":"2008","unstructured":"Kristman VL, Tator CH, Kreiger N, Richards D, Mainwaring L, Jaglal S, Tomlinson G, Comper P (2008) Does the apolipoprotein epsilon 4 allele predispose varsity athletes to concussion? A prospective cohort study. Clin J Sport Med 18(4):322\u2013328. https:\/\/doi.org\/10.1097\/JSM.0b013e31817e6f3e","journal-title":"Clin J Sport Med"},{"issue":"1","key":"14139_CR13","doi-asserted-by":"publisher","first-page":"10","DOI":"10.1097\/JSM.0b013e31815c1d4c","volume":"18","author":"TR Terrell","year":"2008","unstructured":"Terrell TR, Bostick RM, Abramson R, Xie D, Barfield W, Cantu R, Stanek M, Ewing T (2008) APOE, APOE promoter, and Tau genotypes and risk for concussion in college athletes. Clin J Sport Med 18(1):10\u201317. https:\/\/doi.org\/10.1097\/JSM.0b013e31815c1d4c","journal-title":"Clin J Sport Med"},{"issue":"1","key":"14139_CR14","doi-asserted-by":"publisher","first-page":"22","DOI":"10.1016\/j.jsams.2018.06.012","volume":"22","author":"S Abrahams","year":"2019","unstructured":"Abrahams S, Mc Fie S, Patricios J, Suter J, September AV, Posthumus M (2019) Toxic tau: the TAU gene polymorphisms associate with concussion history in rugby union players. J Sci Med Sport 22(1):22\u201328. https:\/\/doi.org\/10.1016\/j.jsams.2018.06.012","journal-title":"J Sci Med Sport"},{"issue":"1","key":"14139_CR15","doi-asserted-by":"publisher","first-page":"e00392","DOI":"10.1002\/brb3.392","volume":"6","author":"MN Dretsch","year":"2016","unstructured":"Dretsch MN, Williams K, Emmerich T, Crynen G, Ait-Ghezala G, Chaytow H, Mathura V, Crawford FC, Iverson GL (2016) Brain-derived neurotropic factor polymorphisms, traumatic stress, mild traumatic brain injury, and combat exposure contribute to postdeployment traumatic stress. Brain Behav 6(1):e00392. https:\/\/doi.org\/10.1002\/brb3.392","journal-title":"Brain Behav"},{"issue":"7","key":"14139_CR16","doi-asserted-by":"publisher","first-page":"e0158838","DOI":"10.1371\/journal.pone.0158838","volume":"11","author":"V Narayanan","year":"2016","unstructured":"Narayanan V, Veeramuthu V, Ahmad-Annuar A, Ramli N, Waran V, Chinna K, Bondi MW, Delano-Wood L, Ganesan D (2016) Missense mutation of brain derived neurotrophic factor (BDNF) alters neurocognitive performance in patients with mild traumatic brain injury: a longitudinal study. PLoS One 11(7):e0158838. https:\/\/doi.org\/10.1371\/journal.pone.0158838","journal-title":"PLoS One"},{"issue":"7","key":"14139_CR17","doi-asserted-by":"publisher","first-page":"908","DOI":"10.3109\/02699052.2016.1146958","volume":"30","author":"SA Madura","year":"2016","unstructured":"Madura SA, McDevitt JK, Tierney RT, Mansell JL, Hayes DJ, Gaughan JP, Krynetskiy E (2016) Genetic variation in SLC17A7 promoter associated with response to sport-related concussions. Brain Inj 30(7):908\u2013913. https:\/\/doi.org\/10.3109\/02699052.2016.1146958","journal-title":"Brain Inj"},{"issue":"13-14","key":"14139_CR18","doi-asserted-by":"publisher","first-page":"1674","DOI":"10.3109\/02699052.2015.1075252","volume":"29","author":"J McDevitt","year":"2015","unstructured":"McDevitt J, Tierney RT, Phillips J, Gaughan JP, Torg JS, Krynetskiy E (2015) Association between GRIN2A promoter polymorphism and recovery from concussion. Brain Inj 29(13\u201314):1674\u20131681. https:\/\/doi.org\/10.3109\/02699052.2015.1075252","journal-title":"Brain Inj"},{"issue":"1","key":"14139_CR19","doi-asserted-by":"publisher","DOI":"10.1136\/bmjsem-2018-000465","volume":"5","author":"S Abrahams","year":"2019","unstructured":"Abrahams S, McFie S, Lacerda M, Patricios J, Suter J, September AV, Posthumus M (2019) Unravelling the interaction between the DRD2 and DRD4 genes, personality traits and concussion risk. BMJ Open Sport Exerc Med 5(1):e000465. https:\/\/doi.org\/10.1136\/bmjsem-2018-000465","journal-title":"BMJ Open Sport Exerc Med"},{"issue":"4","key":"14139_CR20","doi-asserted-by":"publisher","first-page":"704","DOI":"10.1249\/MSS.0000000000002529","volume":"53","author":"SK Kim","year":"2021","unstructured":"Kim SK, Roche MD, Fredericson M, Dragoo JL, Horton BH, Avins AL, Belanger HG, Ioannidis JPA, Abrams GD (2021) A genome-wide association study for concussion risk. Med Sci Sports Exerc 53(4):704\u2013711. https:\/\/doi.org\/10.1249\/MSS.0000000000002529","journal-title":"Med Sci Sports Exerc"},{"key":"14139_CR21","doi-asserted-by":"publisher","first-page":"103933","DOI":"10.1016\/j.ebiom.2022.103933","volume":"77","author":"M Kals","year":"2022","unstructured":"Kals M, Kunzmann K, Parodi L, Radmanesh F, Wilson L, Izzy S, Anderson CD, Puccio AM, Okonkwo DO, Temkin N, Steyerberg EW, Stein MB, Manley GT, Maas AIR, Richardson S, Diaz-Arrastia R, Palotie A, Ripatti S, Rosand J, Menon DK, Genetic Associations In Neurotrauma C (2022) A genome-wide association study of outcome from traumatic brain injury. EBioMedicine 77:103933. https:\/\/doi.org\/10.1016\/j.ebiom.2022.103933","journal-title":"EBioMedicine"},{"issue":"1","key":"14139_CR22","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1038\/s41380-023-02304-8","volume":"29","author":"VC Merritt","year":"2024","unstructured":"Merritt VC, Maihofer AX, Gasperi M, Chanfreau-Coffinier C, Stein MB, Panizzon MS, Hauger RL, Logue MW, Delano-Wood L, Nievergelt CM (2024) Genome-wide association study of traumatic brain injury in U.S. military veterans enrolled in the VA million veteran program. Mol Psychiatry 29(1):97\u2013111. https:\/\/doi.org\/10.1038\/s41380-023-02304-8","journal-title":"Mol Psychiatry"},{"issue":"3","key":"14139_CR23","first-page":"228","volume":"36","author":"CC Giza","year":"2001","unstructured":"Giza CC, Hovda DA (2001) The neurometabolic cascade of concussion. J Athl Train 36(3):228\u2013235","journal-title":"J Athl Train"},{"issue":"Suppl 4","key":"14139_CR24","doi-asserted-by":"publisher","first-page":"S24","DOI":"10.1227\/NEU.0000000000000505","volume":"75","author":"CC Giza","year":"2014","unstructured":"Giza CC, Hovda DA (2014) The new neurometabolic cascade of concussion. Neurosurgery 75(Suppl 4):S24-33. https:\/\/doi.org\/10.1227\/NEU.0000000000000505","journal-title":"Neurosurgery"},{"issue":"1","key":"14139_CR25","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1016\/j.csm.2010.08.009","volume":"30","author":"DF Meaney","year":"2011","unstructured":"Meaney DF, Smith DH (2011) Biomechanics of concussion. Clin Sports Med 30(1):19\u201331. https:\/\/doi.org\/10.1016\/j.csm.2010.08.009","journal-title":"Clin Sports Med"},{"issue":"1","key":"14139_CR26","doi-asserted-by":"publisher","first-page":"106","DOI":"10.1016\/0006-8993(91)90755-k","volume":"561","author":"A Yoshino","year":"1991","unstructured":"Yoshino A, Hovda DA, Kawamata T, Katayama Y, Becker DP (1991) Dynamic changes in local cerebral glucose utilization following cerebral conclusion in rats: evidence of a hyper and subsequent hypometabolic state. Brain Res 561(1):106\u2013119. https:\/\/doi.org\/10.1016\/0006-8993(91)90755-k","journal-title":"Brain Res"},{"issue":"6","key":"14139_CR27","doi-asserted-by":"publisher","first-page":"950","DOI":"10.1089\/neu.2006.23.950","volume":"23","author":"CC Giza","year":"2006","unstructured":"Giza CC, Maria NS, Hovda DA (2006) N-methyl-D-aspartate receptor subunit changes after traumatic injury to the developing brain. J Neurotrauma 23(6):950\u2013961. https:\/\/doi.org\/10.1089\/neu.2006.23.950","journal-title":"J Neurotrauma"},{"key":"14139_CR28","doi-asserted-by":"publisher","first-page":"396","DOI":"10.1016\/j.neubiorev.2016.09.014","volume":"76","author":"SR Shultz","year":"2017","unstructured":"Shultz SR, McDonald SJ, Vonder Haar C, Meconi A, Vink R, van Donkelaar P, Taneja C, Iverson GL, Christie BR (2017) The potential for animal models to provide insight into mild traumatic brain injury: translational challenges and strategies. Neurosci Biobehav Rev 76:396\u2013414. https:\/\/doi.org\/10.1016\/j.neubiorev.2016.09.014","journal-title":"Neurosci Biobehav Rev"},{"issue":"5","key":"14139_CR29","doi-asserted-by":"publisher","first-page":"967","DOI":"10.1007\/s00401-022-02498-1","volume":"144","author":"H Song","year":"2022","unstructured":"Song H, McEwan PP, Ameen-Ali KE, Tomasevich A, Kennedy-Dietrich C, Palma A, Arroyo EJ, Dolle JP, Johnson VE, Stewart W, Smith DH (2022) Concussion leads to widespread axonal sodium channel loss and disruption of the node of Ranvier. Acta Neuropathol 144(5):967\u2013985. https:\/\/doi.org\/10.1007\/s00401-022-02498-1","journal-title":"Acta Neuropathol"},{"key":"14139_CR30","doi-asserted-by":"publisher","first-page":"38","DOI":"10.1016\/j.neuroscience.2023.01.034","volume":"514","author":"LC Fox","year":"2023","unstructured":"Fox LC, Scholl JL, Watt MJ, Forster GL (2023) GABA(A) receptor and serotonin transporter expression changes dissociate following mild traumatic brain injury: influence of sex and estrus cycle phase in rats. Neuroscience 514:38\u201355. https:\/\/doi.org\/10.1016\/j.neuroscience.2023.01.034","journal-title":"Neuroscience"},{"key":"14139_CR31","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1016\/j.expneurol.2015.07.028","volume":"273","author":"CP Almeida-Suhett","year":"2015","unstructured":"Almeida-Suhett CP, Prager EM, Pidoplichko V, Figueiredo TH, Marini AM, Li Z, Eiden LE, Braga MF (2015) GABAergic interneuronal loss and reduced inhibitory synaptic transmission in the hippocampal CA1 region after mild traumatic brain injury. Exp Neurol 273:11\u201323. https:\/\/doi.org\/10.1016\/j.expneurol.2015.07.028","journal-title":"Exp Neurol"},{"issue":"1","key":"14139_CR32","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1016\/j.csm.2020.08.001","volume":"40","author":"DR Howell","year":"2021","unstructured":"Howell DR, Southard J (2021) The molecular pathophysiology of concussion. Clin Sports Med 40(1):39\u201351. https:\/\/doi.org\/10.1016\/j.csm.2020.08.001","journal-title":"Clin Sports Med"},{"issue":"1","key":"14139_CR33","doi-asserted-by":"publisher","first-page":"12","DOI":"10.1186\/s10194-023-01547-8","volume":"24","author":"L Grangeon","year":"2023","unstructured":"Grangeon L, Lange KS, Waliszewska-Prosol M, Onan D, Marschollek K, Wiels W, Mikulenka P, Farham F, Gollion C, Ducros A, European Headache Federation School of Advanced S (2023) Genetics of migraine: where are we now. J Headache Pain 24(1):12. https:\/\/doi.org\/10.1186\/s10194-023-01547-8","journal-title":"J Headache Pain"},{"issue":"4","key":"14139_CR34","doi-asserted-by":"publisher","first-page":"329","DOI":"10.1016\/j.pediatrneurol.2005.08.033","volume":"34","author":"RP Curtain","year":"2006","unstructured":"Curtain RP, Smith RL, Ovcaric M, Griffiths LR (2006) Minor head trauma-induced sporadic hemiplegic migraine coma. Pediatr Neurol 34(4):329\u2013332. https:\/\/doi.org\/10.1016\/j.pediatrneurol.2005.08.033","journal-title":"Pediatr Neurol"},{"issue":"6","key":"14139_CR35","doi-asserted-by":"publisher","first-page":"753","DOI":"10.1002\/ana.1031","volume":"49","author":"EE Kors","year":"2001","unstructured":"Kors EE, Terwindt GM, Vermeulen FL, Fitzsimons RB, Jardine PE, Heywood P, Love S, van den Maagdenberg AM, Haan J, Frants RR, Ferrari MD (2001) Delayed cerebral edema and fatal coma after minor head trauma: role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine. Ann Neurol 49(6):753\u2013760. https:\/\/doi.org\/10.1002\/ana.1031","journal-title":"Ann Neurol"},{"issue":"2","key":"14139_CR36","doi-asserted-by":"publisher","first-page":"375","DOI":"10.1007\/s00424-010-0802-8","volume":"460","author":"D Pietrobon","year":"2010","unstructured":"Pietrobon D (2010) CaV2.1 channelopathies. Pflugers Arch 460(2):375\u2013393. https:\/\/doi.org\/10.1007\/s00424-010-0802-8","journal-title":"Pflugers Arch"},{"key":"14139_CR37","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.74923","author":"NA Terpollili","year":"2022","unstructured":"Terpollili NA, Dolp R, Waehner K, Schwarzmaier SM, Rumbler E, Todorov B, Ferrari MD, van den Maagdenberg A, Plesnila N (2022) Ca(V)2.1 channel mutations causing familial hemiplegic migraine type 1 increase the susceptibility for cortical spreading depolarizations and seizures and worsen outcome after experimental traumatic brain injury. Elife. https:\/\/doi.org\/10.7554\/eLife.74923","journal-title":"Elife"},{"issue":"5","key":"14139_CR38","doi-asserted-by":"publisher","first-page":"762","DOI":"10.1016\/j.neuron.2009.01.027","volume":"61","author":"A Tottene","year":"2009","unstructured":"Tottene A, Conti R, Fabbro A, Vecchia D, Shapovalova M, Santello M, van den Maagdenberg AM, Ferrari MD, Pietrobon D (2009) Enhanced excitatory transmission at cortical synapses as the basis for facilitated spreading depression in Ca(v)21 knockin migraine mice. Neuron 61(5):762\u2013773. https:\/\/doi.org\/10.1016\/j.neuron.2009.01.027","journal-title":"Neuron"},{"issue":"17","key":"14139_CR39","doi-asserted-by":"publisher","first-page":"1870","DOI":"10.1089\/neu.2019.6962","volume":"37","author":"O Ibrahim","year":"2020","unstructured":"Ibrahim O, Sutherland HG, Maksemous N, Smith R, Haupt LM, Griffiths LR (2020) Exploring neuronal vulnerability to head trauma using a whole exome approach. J Neurotrauma 37(17):1870\u20131879. https:\/\/doi.org\/10.1089\/neu.2019.6962","journal-title":"J Neurotrauma"},{"issue":"2","key":"14139_CR40","doi-asserted-by":"publisher","first-page":"1437","DOI":"10.1016\/j.ygeno.2019.08.014","volume":"112","author":"O Ibrahim","year":"2020","unstructured":"Ibrahim O, Sutherland HG, Haupt LM, Griffiths LR (2020) Saliva as a comparable-quality source of DNA for whole exome sequencing on ion platforms. Genomics 112(2):1437\u20131443. https:\/\/doi.org\/10.1016\/j.ygeno.2019.08.014","journal-title":"Genomics"},{"issue":"5","key":"14139_CR41","doi-asserted-by":"publisher","first-page":"863","DOI":"10.1101\/gr.176601","volume":"11","author":"PC Ng","year":"2001","unstructured":"Ng PC, Henikoff S (2001) Predicting deleterious amino acid substitutions. Genome Res 11(5):863\u2013874. https:\/\/doi.org\/10.1101\/gr.176601","journal-title":"Genome Res"},{"issue":"4","key":"14139_CR42","doi-asserted-by":"publisher","first-page":"248","DOI":"10.1038\/nmeth0410-248","volume":"7","author":"IA Adzhubei","year":"2010","unstructured":"Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR (2010) A method and server for predicting damaging missense mutations. Nat Methods 7(4):248\u2013249. https:\/\/doi.org\/10.1038\/nmeth0410-248","journal-title":"Nat Methods"},{"issue":"8","key":"14139_CR43","doi-asserted-by":"publisher","first-page":"575","DOI":"10.1038\/nmeth0810-575","volume":"7","author":"JM Schwarz","year":"2010","unstructured":"Schwarz JM, Rodelsperger C, Schuelke M, Seelow D (2010) MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods 7(8):575\u2013576. https:\/\/doi.org\/10.1038\/nmeth0810-575","journal-title":"Nat Methods"},{"issue":"3","key":"14139_CR44","doi-asserted-by":"publisher","first-page":"310","DOI":"10.1038\/ng.2892","volume":"46","author":"M Kircher","year":"2014","unstructured":"Kircher M, Witten DM, Jain P, O\u2019Roak BJ, Cooper GM, Shendure J (2014) A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet 46(3):310\u2013315. https:\/\/doi.org\/10.1038\/ng.2892","journal-title":"Nat Genet"},{"key":"14139_CR45","doi-asserted-by":"publisher","DOI":"10.1177\/2515816319881630","volume":"2","author":"N Maksemous","year":"2019","unstructured":"Maksemous N, Smith RA, Sutherland HG, Maher BH, Ibrahim O, Nicholson GA, Carpenter EP, Lea RA, Cader MZ, Griffiths LR (2019) Targeted next generation sequencing identifies a genetic spectrum of DNA variants in patients with hemiplegic migraine. Cephalalgia Rep 2:2515816319881630. https:\/\/doi.org\/10.1177\/2515816319881630","journal-title":"Cephalalgia Rep"},{"issue":"Suppl 5","key":"14139_CR46","first-page":"31","volume":"12","author":"RA Ophoff","year":"1997","unstructured":"Ophoff RA, Terwindt GM, Vergouwe MN, Frants RR, Ferrari MD (1997) Familial hemiplegic migraine: involvement of a calcium neuronal channel. Neurologia 12(Suppl 5):31\u201337","journal-title":"Neurologia"},{"issue":"5-6","key":"14139_CR47","doi-asserted-by":"publisher","first-page":"307","DOI":"10.1016\/s0143-4160(98)90055-0","volume":"24","author":"WA Catterall","year":"1998","unstructured":"Catterall WA (1998) Structure and function of neuronal Ca2+ channels and their role in neurotransmitter release. Cell Calcium 24(5\u20136):307\u2013323. https:\/\/doi.org\/10.1016\/s0143-4160(98)90055-0","journal-title":"Cell Calcium"},{"issue":"2","key":"14139_CR48","doi-asserted-by":"publisher","first-page":"89","DOI":"10.1016\/0166-2236(95)80030-6","volume":"18","author":"K Dunlap","year":"1995","unstructured":"Dunlap K, Luebke JI, Turner TJ (1995) Exocytotic Ca2+ channels in mammalian central neurons. Trends Neurosci 18(2):89\u201398","journal-title":"Trends Neurosci"},{"issue":"10","key":"14139_CR49","doi-asserted-by":"publisher","first-page":"6403","DOI":"10.1523\/JNEUROSCI.15-10-06403.1995","volume":"15","author":"RE Westenbroek","year":"1995","unstructured":"Westenbroek RE, Sakurai T, Elliott EM, Hell JW, Starr TV, Snutch TP, Catterall WA (1995) Immunochemical identification and subcellular distribution of the alpha 1A subunits of brain calcium channels. J Neurosci 15(10):6403\u20136418. https:\/\/doi.org\/10.1523\/JNEUROSCI.15-10-06403.1995","journal-title":"J Neurosci"},{"issue":"1-2","key":"14139_CR50","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1016\/j.jns.2007.01.008","volume":"254","author":"F Cricchi","year":"2007","unstructured":"Cricchi F, Di Lorenzo C, Grieco GS, Rengo C, Cardinale A, Racaniello M, Santorelli FM, Nappi G, Pierelli F, Casali C (2007) Early-onset progressive ataxia associated with the first CACNA1A mutation identified within the I-II loop. J Neurol Sci 254(1\u20132):69\u201371. https:\/\/doi.org\/10.1016\/j.jns.2007.01.008","journal-title":"J Neurol Sci"},{"issue":"4","key":"14139_CR51","doi-asserted-by":"publisher","first-page":"1672","DOI":"10.1073\/pnas.0908359107","volume":"107","author":"SA Serra","year":"2010","unstructured":"Serra SA, Cuenca-Leon E, Llobet A, Rubio-Moscardo F, Plata C, Carreno O, Fernandez-Castillo N, Corominas R, Valverde MA, Macaya A, Cormand B, Fernandez-Fernandez JM (2010) A mutation in the first intracellular loop of CACNA1A prevents P\/Q channel modulation by SNARE proteins and lowers exocytosis. Proc Natl Acad Sci U S A 107(4):1672\u20131677. https:\/\/doi.org\/10.1073\/pnas.0908359107","journal-title":"Proc Natl Acad Sci U S A"},{"key":"14139_CR52","doi-asserted-by":"publisher","DOI":"10.3389\/fnmol.2022.892820","volume":"15","author":"N Maksemous","year":"2022","unstructured":"Maksemous N, Blayney CD, Sutherland HG, Smith RA, Lea RA, Tran KN, Ibrahim O, McArthur JR, Haupt LM, Cader MZ, Finol-Urdaneta RK, Adams DJ, Griffiths LR (2022) Investigation of CACNA1I Cav3.3 dysfunction in hemiplegic migraine. Front Mol Neurosci 15:892820. https:\/\/doi.org\/10.3389\/fnmol.2022.892820","journal-title":"Front Mol Neurosci"},{"issue":"4","key":"14139_CR53","doi-asserted-by":"publisher","first-page":"987","DOI":"10.1093\/hmg\/ddu513","volume":"24","author":"JL Groen","year":"2015","unstructured":"Groen JL, Andrade A, Ritz K, Jalalzadeh H, Haagmans M, Bradley TE, Jongejan A, Verbeek DS, Nurnberg P, Denome S, Hennekam RC, Lipscombe D, Baas F, Tijssen MA (2015) CACNA1B mutation is linked to unique myoclonus-dystonia syndrome. Hum Mol Genet 24(4):987\u2013993. https:\/\/doi.org\/10.1093\/hmg\/ddu513","journal-title":"Hum Mol Genet"},{"issue":"18","key":"14139_CR54","doi-asserted-by":"publisher","first-page":"5326","DOI":"10.1093\/hmg\/ddv255","volume":"24","author":"NE Mencacci","year":"2015","unstructured":"Mencacci NE, R\u2019Bibo L, Bandres-Ciga S, Carecchio M, Zorzi G, Nardocci N, Garavaglia B, Batla A, Bhatia KP, Pittman AM, Hardy J, Weissbach A, Klein C, Gasser T, Lohmann E, Wood NW (2015) The CACNA1B R1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohort. Hum Mol Genet 24(18):5326\u20135329. https:\/\/doi.org\/10.1093\/hmg\/ddv255","journal-title":"Hum Mol Genet"},{"issue":"3","key":"14139_CR55","doi-asserted-by":"publisher","first-page":"466","DOI":"10.1016\/j.neuron.2018.03.017","volume":"98","author":"E Nanou","year":"2018","unstructured":"Nanou E, Catterall WA (2018) Calcium channels, synaptic plasticity, and neuropsychiatric disease. Neuron 98(3):466\u2013481. https:\/\/doi.org\/10.1016\/j.neuron.2018.03.017","journal-title":"Neuron"},{"key":"14139_CR56","doi-asserted-by":"publisher","first-page":"159","DOI":"10.1007\/164_2022_624","volume":"279","author":"KG Herold","year":"2023","unstructured":"Herold KG, Hussey JW, Dick IE (2023) CACNA1C-related channelopathies. Handb Exp Pharmacol 279:159\u2013181. https:\/\/doi.org\/10.1007\/164_2022_624","journal-title":"Handb Exp Pharmacol"},{"issue":"6","key":"14139_CR57","doi-asserted-by":"publisher","first-page":"683","DOI":"10.1111\/chd.12371","volume":"11","author":"BS Sutphin","year":"2016","unstructured":"Sutphin BS, Boczek NJ, Barajas-Martinez H, Hu D, Ye D, Tester DJ, Antzelevitch C, Ackerman MJ (2016) Molecular and functional characterization of rare CACNA1C variants in sudden unexplained death in the young. Congenit Heart Dis 11(6):683\u2013692. https:\/\/doi.org\/10.1111\/chd.12371","journal-title":"Congenit Heart Dis"},{"issue":"20","key":"14139_CR58","doi-asserted-by":"publisher","first-page":"5839","DOI":"10.1113\/JP270672","volume":"594","author":"A Pinggera","year":"2016","unstructured":"Pinggera A, Striessnig J (2016) Ca(v) 1.3 (CACNA1D) L-type Ca(2+) channel dysfunction in CNS disorders. J Physiol 594(20):5839\u20135849. https:\/\/doi.org\/10.1113\/JP270672","journal-title":"J Physiol"},{"issue":"5","key":"14139_CR59","doi-asserted-by":"publisher","first-page":"666","DOI":"10.1016\/j.ajhg.2018.09.006","volume":"103","author":"KL Helbig","year":"2018","unstructured":"Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Heron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xing Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Sadeghpour A, Davis EE, Katsanis N, Task Force for Neonatal G, Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S, Deciphering Developmental Disorders S, Hedrich UBS, Scheffer IE, Helbig I, Zamponi GW, Lerche H, Mefford HC (2018) De novo pathogenic variants in CACNA1E cause developmental and epileptic encephalopathy with contractures, macrocephaly, and dyskinesias. Am J Hum Genet 103(5):666\u2013678. https:\/\/doi.org\/10.1016\/j.ajhg.2018.09.006","journal-title":"Am J Hum Genet"},{"issue":"16","key":"14139_CR60","doi-asserted-by":"publisher","first-page":"3620","DOI":"10.1002\/jnr.22161","volume":"87","author":"TJ Yuen","year":"2009","unstructured":"Yuen TJ, Browne KD, Iwata A, Smith DH (2009) Sodium channelopathy induced by mild axonal trauma worsens outcome after a repeat injury. J Neurosci Res 87(16):3620\u20133625. https:\/\/doi.org\/10.1002\/jnr.22161","journal-title":"J Neurosci Res"},{"key":"14139_CR61","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-015-0347-1","volume":"10","author":"Z Tang","year":"2015","unstructured":"Tang Z, Chen Z, Tang B, Jiang H (2015) Primary erythromelalgia: a review. Orphanet J Rare Dis 10:127. https:\/\/doi.org\/10.1186\/s13023-015-0347-1","journal-title":"Orphanet J Rare Dis"},{"issue":"1","key":"14139_CR62","doi-asserted-by":"publisher","first-page":"212","DOI":"10.1186\/s12859-021-04119-2","volume":"22","author":"MN Xenakis","year":"2021","unstructured":"Xenakis MN, Kapetis D, Yang Y, Gerrits MM, Heijman J, Waxman SG, Lauria G, Faber CG, Westra RL, Lindsey PJ, Smeets HJ (2021) Hydropathicity-based prediction of pain-causing NaV1.7 variants. BMC Bioinform 22(1):212. https:\/\/doi.org\/10.1186\/s12859-021-04119-2","journal-title":"BMC Bioinform"},{"issue":"3","key":"14139_CR63","doi-asserted-by":"publisher","first-page":"342","DOI":"10.1136\/jnnp-2018-319042","volume":"90","author":"I Eijkenboom","year":"2019","unstructured":"Eijkenboom I, Sopacua M, Hoeijmakers JGJ, de Greef BTA, Lindsey P, Almomani R, Marchi M, Vanoevelen J, Smeets HJM, Waxman SG, Lauria G, Merkies ISJ, Faber CG, Gerrits MM (2019) Yield of peripheral sodium channels gene screening in pure small fibre neuropathy. J Neurol Neurosurg Psychiatry 90(3):342\u2013352. https:\/\/doi.org\/10.1136\/jnnp-2018-319042","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"9","key":"14139_CR64","doi-asserted-by":"publisher","first-page":"e1000649","DOI":"10.1371\/journal.pgen.1000649","volume":"5","author":"NA Singh","year":"2009","unstructured":"Singh NA, Pappas C, Dahle EJ, Claes LR, Pruess TH, De Jonghe P, Thompson J, Dixon M, Gurnett C, Peiffer A, White HS, Filloux F, Leppert MF (2009) A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome. PLoS Genet 5(9):e1000649. https:\/\/doi.org\/10.1371\/journal.pgen.1000649","journal-title":"PLoS Genet"},{"key":"14139_CR65","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1016\/j.seizure.2016.11.030","volume":"44","author":"J Wang","year":"2017","unstructured":"Wang J, Lin ZJ, Liu L, Xu HQ, Shi YW, Yi YH, He N, Liao WP (2017) Epilepsy-associated genes. Seizure 44:11\u201320. https:\/\/doi.org\/10.1016\/j.seizure.2016.11.030","journal-title":"Seizure"},{"key":"14139_CR66","doi-asserted-by":"publisher","first-page":"92","DOI":"10.1186\/1744-8069-7-92","volume":"7","author":"M Estacion","year":"2011","unstructured":"Estacion M, Han C, Choi JS, Hoeijmakers JG, Lauria G, Drenth JP, Gerrits MM, Dib-Hajj SD, Faber CG, Merkies IS, Waxman SG (2011) Intra- and interfamily phenotypic diversity in pain syndromes associated with a gain-of-function variant of NaV1.7. Mol Pain 7:92. https:\/\/doi.org\/10.1186\/1744-8069-7-92","journal-title":"Mol Pain"},{"issue":"1","key":"14139_CR67","doi-asserted-by":"publisher","first-page":"26","DOI":"10.1002\/ana.22485","volume":"71","author":"CG Faber","year":"2012","unstructured":"Faber CG, Hoeijmakers JG, Ahn HS, Cheng X, Han C, Choi JS, Estacion M, Lauria G, Vanhoutte EK, Gerrits MM, Dib-Hajj S, Drenth JP, Waxman SG, Merkies IS (2012) Gain of function Nav1.7 mutations in idiopathic small fiber neuropathy. Ann Neurol 71(1):26\u201339. https:\/\/doi.org\/10.1002\/ana.22485","journal-title":"Ann Neurol"},{"issue":"3","key":"14139_CR68","doi-asserted-by":"publisher","first-page":"e200060","DOI":"10.1212\/NXG.0000000000200060","volume":"9","author":"JB Hack","year":"2023","unstructured":"Hack JB, Horning K, Juroske Short DM, Schreiber JM, Watkins JC, Hammer MF (2023) Distinguishing loss-of-function and gain-of-function SCN8A variants using a random forest classification model trained on clinical features. Neurol Genet 9(3):e200060. https:\/\/doi.org\/10.1212\/NXG.0000000000200060","journal-title":"Neurol Genet"},{"key":"14139_CR69","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.78349","author":"B Ferguson","year":"2023","unstructured":"Ferguson B, Glick C, Huguenard JR (2023) Prefrontal PV interneurons facilitate attention and are linked to attentional dysfunction in a mouse model of absence epilepsy. Elife. https:\/\/doi.org\/10.7554\/eLife.78349","journal-title":"Elife"},{"issue":"1","key":"14139_CR70","doi-asserted-by":"publisher","first-page":"e003574","DOI":"10.1161\/CIRCGEN.121.003574","volume":"15","author":"C Paludan-Muller","year":"2022","unstructured":"Paludan-Muller C, Larsen S, Ahlberg G, Andreasen L, Monfort LM, Svendsen JH, Jespersen T, Bundgaard H, Kanters JK, Olesen MS (2022) Clinical implications of SCN10A loss-of-function variants in 169 610 exomes representing the general population. Circ Genom Precis Med 15(1):e003574. https:\/\/doi.org\/10.1161\/CIRCGEN.121.003574","journal-title":"Circ Genom Precis Med"},{"key":"14139_CR71","doi-asserted-by":"publisher","first-page":"709228","DOI":"10.3389\/fnmol.2021.709228","volume":"14","author":"B Heinrichs","year":"2021","unstructured":"Heinrichs B, Liu B, Zhang J, Meents JE, Le K, Erickson A, Hautvast P, Zhu X, Li N, Liu Y, Spehr M, Habel U, Rothermel M, Namer B, Zhang X, Lampert A, Duan G (2021) The potential effect of Na (v) 18 in Autism spectrum disorder: evidence from a congenital case with compound heterozygous SCN10A mutations. Front Mol Neurosci 14:709228. https:\/\/doi.org\/10.3389\/fnmol.2021.709228","journal-title":"Front Mol Neurosci"},{"key":"14139_CR72","doi-asserted-by":"publisher","DOI":"10.3390\/genes13091633","author":"A Rabia","year":"2022","unstructured":"Rabia A, Harripaul R, Mikhailov A, Mahmood S, Maqbool S, Vincent JB, Ayub M (2022) Biallelic loss of function mutation in sodium channel gene SCN10A in an autism spectrum disorder trio from Pakistan. Genes (Basel). https:\/\/doi.org\/10.3390\/genes13091633","journal-title":"Genes (Basel)"},{"issue":"1","key":"14139_CR73","doi-asserted-by":"publisher","first-page":"26","DOI":"10.1002\/acn3.372","volume":"4","author":"M Kambouris","year":"2017","unstructured":"Kambouris M, Thevenon J, Soldatos A, Cox A, Stephen J, Ben-Omran T, Al-Sarraj Y, Boulos H, Bone W, Mullikin JC, Program NCS, Masurel-Paulet A, St-Onge J, Dufford Y, Chantegret C, Thauvin-Robinet C, Al-Alami J, Faivre L, Riviere JB, Gahl WA, Bassuk AG, Malicdan MC, El-Shanti H (2017) Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy. Ann Clin Transl Neurol 4(1):26\u201335. https:\/\/doi.org\/10.1002\/acn3.372","journal-title":"Ann Clin Transl Neurol"},{"issue":"4","key":"14139_CR74","doi-asserted-by":"publisher","first-page":"299","DOI":"10.1111\/ahg.12024","volume":"77","author":"A Aggarwal","year":"2013","unstructured":"Aggarwal A, Chandhok G, Todorov T, Parekh S, Tilve S, Zibert A, Bhatt M, Schmidt HH (2013) Wilson disease mutation pattern with genotype-phenotype correlations from Western India: confirmation of p.C271* as a common Indian mutation and identification of 14 novel mutations. Ann Hum Genet 77(4):299\u2013307. https:\/\/doi.org\/10.1111\/ahg.12024","journal-title":"Ann Hum Genet"},{"key":"14139_CR75","doi-asserted-by":"publisher","DOI":"10.3390\/ijms25042402","author":"EV Ovchinnikova","year":"2024","unstructured":"Ovchinnikova EV, Garbuz MM, Ovchinnikova AA, Kumeiko VV (2024) Epidemiology of Wilson\u2019s disease and pathogenic variants of the ATP7B gene leading to diversified protein disfunctions. Int J Mol Sci. https:\/\/doi.org\/10.3390\/ijms25042402","journal-title":"Int J Mol Sci"},{"key":"14139_CR76","doi-asserted-by":"publisher","DOI":"10.3390\/ijms24076867","author":"R Squitti","year":"2023","unstructured":"Squitti R, Reale G, Tondolo V, Crescenti D, Bellini S, Moci M, Caliandro P, Padua L, Rongioletti M (2023) Imbalance of essential metals in traumatic brain injury and its possible link with disorders of consciousness. Int J Mol Sci. https:\/\/doi.org\/10.3390\/ijms24076867","journal-title":"Int J Mol Sci"},{"issue":"3","key":"14139_CR77","doi-asserted-by":"publisher","first-page":"2087","DOI":"10.1002\/cphy.c110047","volume":"2","author":"C Gonzalez","year":"2012","unstructured":"Gonzalez C, Baez-Nieto D, Valencia I, Oyarzun I, Rojas P, Naranjo D, Latorre R (2012) K(+) channels: function-structural overview. Compr Physiol 2(3):2087\u20132149. https:\/\/doi.org\/10.1002\/cphy.c110047","journal-title":"Compr Physiol"},{"key":"14139_CR78","doi-asserted-by":"publisher","DOI":"10.3390\/cells10102628","author":"S Della Vecchia","year":"2021","unstructured":"Della Vecchia S, Marchese M, Santorelli FM, Sicca F (2021) Kir4.1 dysfunction in the pathophysiology of depression: a systematic review. Cells. https:\/\/doi.org\/10.3390\/cells10102628","journal-title":"Cells"},{"key":"14139_CR79","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awae075","author":"F Ding","year":"2024","unstructured":"Ding F, Sun Q, Long C, Rasmussen RN, Peng S, Xu Q, Kang N, Song W, Weikop P, Goldman SA, Nedergaard M (2024) Dysregulation of extracellular potassium distinguishes healthy ageing from neurodegeneration. Brain. https:\/\/doi.org\/10.1093\/brain\/awae075","journal-title":"Brain"},{"key":"14139_CR80","doi-asserted-by":"publisher","first-page":"1371282","DOI":"10.3389\/fgene.2024.1371282","volume":"15","author":"F Cui","year":"2024","unstructured":"Cui F, Wulan T, Zhang Q, Zhang VW, Jiang Y (2024) Identification of a novel KCNT2 variant in a family with developmental and epileptic encephalopathies: a case report and literature review. Front Genet 15:1371282. https:\/\/doi.org\/10.3389\/fgene.2024.1371282","journal-title":"Front Genet"},{"issue":"2","key":"14139_CR81","doi-asserted-by":"publisher","first-page":"332","DOI":"10.1002\/ana.26662","volume":"94","author":"MC Cioclu","year":"2023","unstructured":"Cioclu MC, Mosca I, Ambrosino P, Puzo D, Bayat A, Wortmann SB, Koch J, Strehlow V, Shirai K, Matsumoto N, Sanders SJ, Michaud V, Legendre M, Riva A, Striano P, Muhle H, Pendziwiat M, Lesca G, Mangano GD, Nardello R, group KC-s, Lemke JR, Moller RS, Soldovieri MV, Rubboli G, Taglialatela M (2023) KCNT2-related disorders: phenotypes, functional, and pharmacological properties. Ann Neurol 94(2):332\u2013349. https:\/\/doi.org\/10.1002\/ana.26662","journal-title":"Ann Neurol"},{"issue":"9","key":"14139_CR82","doi-asserted-by":"publisher","first-page":"10351","DOI":"10.3390\/cimb46090616","volume":"46","author":"AS Gracheva","year":"2024","unstructured":"Gracheva AS, Kashatnikova DA, Redkin IV, Zakharchenko VE, Kuzovlev AN, Salnikova LE (2024) Genetics and traumatic brain injury: findings from an exome-based study of a 50-patient case series. Curr Issues Mol Biol 46(9):10351\u201310368. https:\/\/doi.org\/10.3390\/cimb46090616","journal-title":"Curr Issues Mol Biol"},{"issue":"17","key":"14139_CR83","doi-asserted-by":"publisher","first-page":"2504","DOI":"10.1089\/neu.2017.4977","volume":"34","author":"M Brizuela","year":"2017","unstructured":"Brizuela M, Blizzard CA, Chuckowree JA, Pitman KA, Young KM, Dickson T (2017) Mild traumatic brain injury leads to decreased inhibition and a differential response of calretinin positive interneurons in the injured cortex. J Neurotrauma 34(17):2504\u20132517. https:\/\/doi.org\/10.1089\/neu.2017.4977","journal-title":"J Neurotrauma"},{"issue":"12","key":"14139_CR84","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0115233","volume":"9","author":"T Li","year":"2014","unstructured":"Li T, Liu J, Smith WW (2014) Synphilin-1 binds ATP and regulates intracellular energy status. PLoS ONE 9(12):e115233. https:\/\/doi.org\/10.1371\/journal.pone.0115233","journal-title":"PLoS ONE"},{"issue":"26","key":"14139_CR85","doi-asserted-by":"publisher","first-page":"23927","DOI":"10.1074\/jbc.M201115200","volume":"277","author":"CS Ribeiro","year":"2002","unstructured":"Ribeiro CS, Carneiro K, Ross CA, Menezes JR, Engelender S (2002) Synphilin-1 is developmentally localized to synaptic terminals, and its association with synaptic vesicles is modulated by alpha-synuclein. J Biol Chem 277(26):23927\u201323933. https:\/\/doi.org\/10.1074\/jbc.M201115200","journal-title":"J Biol Chem"},{"key":"14139_CR86","doi-asserted-by":"publisher","DOI":"10.1136\/fmch-2020-000390","author":"MP Morissette","year":"2020","unstructured":"Morissette MP, Prior HJ, Tate RB, Wade J, Leiter JRS (2020) Associations between concussion and risk of diagnosis of psychological and neurological disorders: a retrospective population-based cohort study. Fam Med Community Health. https:\/\/doi.org\/10.1136\/fmch-2020-000390","journal-title":"Fam Med Community Health"},{"issue":"20","key":"14139_CR87","doi-asserted-by":"publisher","first-page":"e1771","DOI":"10.1212\/WNL.0000000000005522","volume":"90","author":"RC Gardner","year":"2018","unstructured":"Gardner RC, Byers AL, Barnes DE, Li Y, Boscardin J, Yaffe K (2018) Mild TBI and risk of Parkinson disease: a chronic effects of neurotrauma consortium study. Neurology 90(20):e1771\u2013e1779. https:\/\/doi.org\/10.1212\/WNL.0000000000005522","journal-title":"Neurology"}],"container-title":["Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-026-14139-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00415-026-14139-8","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-026-14139-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,11,5]],"date-time":"2026-11-05T17:03:20Z","timestamp":1793898200000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00415-026-14139-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9,12]]},"references-count":87,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2026,10]]}},"alternative-id":["14139"],"URL":"https:\/\/doi.org\/10.1007\/s00415-026-14139-8","relation":{},"ISSN":["0340-5354","1432-1459"],"issn-type":[{"value":"0340-5354","type":"print"},{"value":"1432-1459","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,9,12]]},"assertion":[{"value":"25 April 2026","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 August 2026","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"8 September 2026","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 September 2026","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"L.R.G. reports recent consultancy support from Teva, participation on the Aust Novartis migraine Advisory Board, and has received research support from VariantBio. She also serves as Chair for the Board of Censors, Diagnostic Genomics, Human Genetics Society Australasia. The other authors declare no conflicts of interests. The funders had no role in the design of the study; in the collection, analyses, or interpretation of data; in the writing of the manuscript; or in the decision to publish the results.","order":1,"name":"Ethics","label":"Conflicts of interest","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This study was performed in accordance with the ethical standards as laid down in the 1964 Declaration of Helsinki and its later amendments. Approval was granted by the Human Research Ethics Committee (HREC) of Queensland University of Technology (QUT) (Project approval number 1400000748), with informed consent obtained from all participants. All experiments were performed according to their guidelines and regulation of QUT HREC.","order":2,"name":"Ethics","label":"Ethical approval","group":{"name":"EthicsHeading","label":"Declarations"}}],"article-number":"591"}}