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Cited by 121Epilepsy research and treatmentIon channel regulation and functionPharmacological Effects and Toxicity Studies

SCN1A Mutation—Beyond Dravet Syndrome: A Systematic Review and Narrative Synthesis

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Ding, Jiangwei, Li, Xinxiao, Tian, Haiyan, Wang, Lei, Guo, Baorui, Wang, Yangyang, Li, Wenchao, Wang, Feng +1 more·2021·Frontiers in Neurology
DOI 10.3389/fneur.2021.743726PMC PMC8739186
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Abstract

Background: SCN1A is one of the most common epilepsy genes. About 80% of SCN1A gene mutations cause Dravet syndrome (DS), which is a severe and catastrophic epileptic encephalopathy. More than 1,800 mutations have been identified in SCN1A . Although it is known that SCN1A is the main cause of DS and genetic epilepsy with febrile seizures plus (GEFS+), there is a dearth of information on the other related diseases caused by mutations of SCN1A . Objective: The aim of this study is to systematically review the literature associated with SCN1A and other non-DS-related disorders. Methods: We searched PubMed and SCOPUS for all the published cases related to gene mutations of SCN1A until October 20, 2021. The results reported by each study were summarized narratively. Results: The PubMed and SCOPUS search yielded 2,889 items. A total of 453 studies published between 2005 and 2020 met the final inclusion criteria. Overall, 303 studies on DS, 93 on GEFS+, three on Doose syndrome, nine on the epilepsy of infancy with migrating focal seizures (EIMFS), six on the West syndrome, two on the Lennox–Gastaut syndrome (LGS), one on the Rett syndrome, seven on the nonsyndromic epileptic encephalopathy (NEE), 19 on hemiplegia migraine, six on autism spectrum disorder (ASD), two on nonepileptic SCN1A -related sudden deaths, and two on the arthrogryposis multiplex congenital were included. Conclusion: Aside from DS, SCN1A also causes other epileptic encephalopathies, such as GEFS+, Doose syndrome, EIMFS, West syndrome, LGS, Rett syndrome, and NEE. In addition to epilepsy, hemiplegic migraine, ASD, sudden death, and arthrogryposis multiplex congenital can also be caused by mutations of SCN1A .

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  • In Dravet Syndrome, loss of excitatory to inhibitory synaptic neurotransmission leads to epilepsy.

    “This was observed in the pathophysiology of Dravet Syndrome where a loss of excitatory to inhibitory synaptic neurotransmission leads to epilepsy [38, 73].”

    From Microglia specific deletion of miR-155 in Alzheimer’s disease mouse models reduces amyloid-β pathology but causes hyperexcitability and seizures (2023) · cites this paper as [73]

    The Dravet Syndrome section (page unavailable) describes Dravet syndrome as an epileptic encephalopathy mainly caused by loss-of-function SCN1A mutations. It does not state that a loss of excitatory-to-inhibitory synaptic neurotransmission leads to the epilepsy, so the proposed mechanism is unsupported by this copy. (LLM, conf=0.82)

    Experimental — accuracy not yet measured

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  1. [1]Marini C Scheffer I Nabbout R Suls A De Jonghe P Zara F. The genetics of Dravet syndrome. Epilepsia. (2011) 52 Suppl 2: 24– 9. 10.1111/j.1528-1167.2011.02997.x 21463275 · DOI
  2. [2]Sato C Ueno Y Asai K Takahashi K Sato M Engel A. The voltage-sensitive sodium channel is a bell-shaped molecule with several cavities. Nature. (2001) 409: 1047– 51. 10.1038/35059098 11234014 · DOI
  3. [3]Lopez-Santiago L Isom LL. Dravet syndrome: a developmental and epileptic encephalopathy. Epilepsy Currents. (2019) 19: 153575971882203. 10.1177/1535759718822038 30838929 PMC6610375 · DOI
  4. [4]Steel D Symonds J Zuberi S Brunklaus A. Dravet syndrome and its mimics: beyond SCN1A. Epilepsia. (2017) 58: 1807– 16. 10.1111/epi.13889 28880996 · DOI
  5. [5]Dichgans M Freilinger T Eckstein G Babini E Lorenz-Depiereux B Biskup S. Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine. Lancet. (2005) 366: 371– 7. 10.1016/S0140-6736(05)66786-4 16054936 · DOI
  6. [6]Weiss L Escayg A Kearney J Trudeau M MacDonald B Mori M. Sodium channels SCN1A, SCN2A and SCN3A in familial autism. Mol Psychiatry. (2003) 8: 186– 94. 10.1038/sj.mp.4001241 12610651 · DOI
  7. [7]D'Gama A Pochareddy S Li M Jamuar S Reiff R Lam A. Targeted DNA sequencing from autism spectrum disorder brains implicates multiple genetic mechanisms. Neuron. (2015) 88: 910– 7. 10.1016/j.neuron.2015.11.009 26637798 PMC4672379 · DOI
  8. [8]Rochtus A Goldstein R Holm I Brownstein C Pérez-Palma E Haynes R. The role of sodium channels in sudden unexpected death in pediatrics. Mol Genet Genomic Med. (2020) 8: e1309. 10.1002/mgg3.1309 32449611 PMC7434613 · DOI
  9. [9]Brownstein C Goldstein R Thompson C Haynes R Giles E Sheidley B. SCN1A variants associated with sudden infant death syndrome. Epilepsia. (2018) 59: e56– 62. 10.1111/epi.14055 29601086 PMC6453530 · DOI
  10. [10]Coll M Allegue C Partemi S Mates J Del Olmo B Campuzano O. Genetic investigation of sudden unexpected death in epilepsy cohort by panel target resequencing. Int J Legal Med. (2016) 130: 331– 9. 10.1007/s00414-015-1269-0 26423924 · DOI
  11. [11]Claes L Del-Favero J Ceulemans B Lagae L Van Broeckhoven C De Jonghe P. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am J Hum Genet. (2001) 68: 1327– 32. 10.1086/320609 11359211 PMC1226119 · DOI · Paper page
  12. [12]Mantegazza M Broccoli V. SCN1A/Na 1.1 channelopathies: mechanisms in expression systems, animal models, and human iPSC models. Epilepsia. (2019) 60 Suppl 3: S25– S38. 10.1111/epi.14700 31904127 · DOI
  13. [13]Mei D Cetica V Marini C Guerrini R. Dravet syndrome as part of the clinical and genetic spectrum of sodium channel epilepsies and encephalopathies. Epilepsia. (2019) 60 Suppl 3: S2– S7. 10.1111/epi.16054 31904125 · DOI
  14. [14]Auvin S Jeljeli M Desnous B Soussi-Yanicostas N Dournaud P Sterkers G. Altered vaccine-induced immunity in children with Dravet syndrome. Epilepsia. (2018) 59: e45– 50. 10.1111/epi.14038 29512885 · DOI
  15. [15]Scheffer I. Diagnosis and long-term course of Dravet syndrome. EJPN. (2012) 16 Suppl 1: S5– 8. 10.1016/j.ejpn.2012.04.007 22704920 · DOI
  16. [16]Xu X Zhang Y Sun H Liu X Yang X Xiong H. Early clinical features and diagnosis of Dravet syndrome in 138 Chinese patients with SCN1A mutations. Brain Dev. (2014) 36: 676– 81. 10.1016/j.braindev.2013.10.004 24168886 · DOI
  17. [17]Verbeek N Kasteleijn-Nolst Trenité D Wassenaar M van Campen J Sonsma A Gunning W. Photosensitivity in Dravet syndrome is under-recognized and related to prognosis. Clin Neurophysiol. (2017) 128: 323– 30. 10.1016/j.clinph.2016.11.021 28042998 · DOI
  18. [18]Brown A Arpone M Schneider A Micallef S Anderson V Scheffer I. Cognitive, behavioral, and social functioning in children and adults with Dravet syndrome. Epilepsy Behav. (2020) 112: 107319. 10.1016/j.yebeh.2020.107319 32858363 · DOI
  19. [19]Licheni S Mcmahon J Schneider A Davey M Scheffer I. Sleep problems in Dravet syndrome: a modifiable comorbidity. Dev Med Child Neurol. (2018) 60: 192– 8. 10.1111/dmcn.13601 29110313 · DOI · Paper page
  20. [20]Selvarajah A Zulfiqar-Ali Q Marques P Rong M Andrade D. A systematic review of adults with Dravet syndrome. Seizure. (2021) 87: 39– 45. 10.1016/j.seizure.2021.02.025 33677403 · DOI
  21. [21]Jansson J Hallböök T Reilly C. Intellectual functioning and behavior in Dravet syndrome: A systematic review. Epilepsy Behav. (2020) 108: 107079. 10.1016/j.yebeh.2020.107079 32334365 · DOI
  22. [22]Ouss L Leunen D Laschet J Chemaly N Barcia G Losito E. Autism spectrum disorder and cognitive profile in children with Dravet syndrome: delineation of a specific phenotype. Epilepsia open. (2019) 4: 40– 53. 10.1002/epi4.12281 30868114 PMC6398110 · DOI
  23. [23]Cooper M Mcintosh A Crompton D McMahon J Schneider A Farrell K. Mortality in Dravet syndrome. Epilepsy Res. (2016) 128: 43– 7. 10.1016/j.eplepsyres.2016.10.006 27810515 · DOI
  24. [24]Scheffer I Berkovic S. Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes. Brain. (1997) 120: 479– 90. 10.1093/brain/120.3.479 9126059 · DOI
  25. [25]Myers K Scheffer I Berkovic S. Genetic literacy series: genetic epilepsy with febrile seizures plus. Epileptic Disord. (2018) 20: 232– 8. 10.1684/epd.2018.0985 30078767 · DOI
  26. [26]Puranam R He X Yao L Le T Jang W Rehder C. Disruption of Fgf13 causes synaptic excitatory-inhibitory imbalance and genetic epilepsy and febrile seizures plus. J Neurosci. (2015) 35: 8866– 81. 10.1523/JNEUROSCI.3470-14.2015 26063919 PMC4461691 · DOI
  27. [27]Li X Guo S Xu S Chen Z Wang L Ding J. Neocortex- and hippocampus-specific deletion of Gabrg2 causes temperature-dependent seizures in mice. Cell Death Dis. (2021) 12: 553. 10.1038/s41419-021-03846-x 34050134 PMC8163876 · DOI
  28. [29]Ebach K Joos H Doose H Stephani U Kurlemann G Fiedler B. SCN1A mutation analysis in myoclonic astatic epilepsy and severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures. Neuropediatrics. (2005) 36: 210– 3. 10.1055/s-2005-865607 15944908 · DOI
  29. [30]Harkin L McMahon J Iona X Dibbens L Pelekanos J Zuberi S. The spectrum of SCN1A-related infantile epileptic encephalopathies. Brain. (2007) 130: 843– 52. 10.1093/brain/awm002 17347258 · DOI
  30. [31]Dimova P Yordanova I Bojinova V Jordanova A Kremenski I. Generalized epilepsy with febrile seizures plus: novel SCN1A mutation. Pediatr Neurol. (2010) 42: 137– 40. 10.1016/j.pediatrneurol.2009.09.007 20117752 · DOI
  31. [32]Angione K Eschbach K Smith G Joshi C Demarest S. Genetic testing in a cohort of patients with potential epilepsy with myoclonic-atonic seizures. Epilepsy Res. (2019) 150: 70– 7. 10.1016/j.eplepsyres.2019.01.008 30660939 · DOI
  32. [33]Hinokuma N Nakashima M Asai H Nakamura K Akaboshi S Fukuoka M. Clinical and genetic characteristics of patients with Doose syndrome. Epilepsia open. (2020) 5: 442– 50. 10.1002/epi4.12417 32913952 PMC7469791 · DOI
  33. [34]Freilich E Jones J Gaillard W Conry J Tsuchida T Reyes C. Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy. Arch Neurol. (2011) 68: 665– 71. 10.1001/archneurol.2011.98 21555645 PMC3092158 · DOI
  34. [35]Carranza Rojo D Hamiwka L McMahon J Dibbens L Arsov T Suls A. De novo SCN1A mutations in migrating partial seizures of infancy. Neurology. (2011) 77: 380– 3. 10.1212/WNL.0b013e318227046d 21753172 PMC3140798 · DOI
  35. [36]Shein S Reynolds T Gedela S Kochanek P Bell M. Therapeutic hypothermia for refractory status epilepticus in a child with malignant migrating partial seizures of infancy and SCN1A mutation: a case report. Ther Hypothermia Temp Manag. (2012) 2: 144– 9. 10.1089/ther.2012.0013 23667778 PMC3621620 · DOI
  36. [37]Zhang Y Kong W Gao Y Liu X Gao K Xie H. Gene mutation analysis in 253 Chinese children with unexplained epilepsy and intellectual/developmental disabilities. PLoS ONE. (2015) 10: e0141782. 10.1371/journal.pone.0141782 26544041 PMC4636363 · DOI
  37. [38]Lim B Hwang H Kim H Chae J Choi J Kim K. et al. Epilepsy phenotype associated with a chromosome 2q243 deletion involving SCN1A: Migrating partial seizures of infancy or atypical Dravet syndrome? Epilepsy Res. (2015) 109: 34– 9. 10.1016/j.eplepsyres.2014.10.008 25524840 · DOI
  38. [39]Shang K Zhang Y Yang X Liu A Yang Z Liu X. Clinical features and gene mutations in epilepsy of infancy with migrating focal seizures. Zhonghua er ke za zhi. (2016) 54: 735– 9. 10.3760/cma.j.issn.0578-1310.2016.10.005 27784474 · DOI
  39. [40]Gokben S Onay H Yilmaz S Atik T Serdaroglu G Tekin H. Targeted next generation sequencing: the diagnostic value in early-onset epileptic encephalopathy. Acta Neurol Belg. (2017) 117: 131– 8. 10.1007/s13760-016-0709-z 27734276 · DOI
  40. [41]Fang Z Xie L Yan L Lin H Pan Y Liu B. Clinical and genetic characteristics of epilepsy of infancy with migrating focal seizures in Chinese children. Epilepsy Res. (2021) 174: 106669. 10.1016/j.eplepsyres.2021.106669 34020146 · DOI
  41. [42]Wallace R Hodgson B Grinton B Gardiner R Robinson R Rodriguez-Casero V. Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms. Neurology. (2003) 61: 765– 9. 10.1212/01.WNL.0000086379.71183.78 14504318 · DOI
  42. [43]Hattori Y Kawawaki H Horino A Thuji H Nukui M Kuki I. A case of West syndrome with a deletion at chromosome 2q243-q313. Brain Dev. (2017) 49: 131– 5. 10.11251/ojjscn.49.131 30113154 · DOI
  43. [44]Krey I Krois-Neudenberger J Hentschel J Syrbe S Polster T Hanker B. Genotype-phenotype correlation on 45 individuals with West syndrome. EJPN. (2020) 25: 134– 8. 10.1016/j.ejpn.2019.11.010 31791873 · DOI
  44. [45]Na J Shin S Yang D Kim B Kim H Kim S. Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy. Brain Dev. (2020) 42: 438– 48. 10.1016/j.braindev.2020.02.004 32139178 · DOI
  45. [46]Henriksen M Ravn K Paus B von Tetzchner S Skjeldal O De. novo mutations in SCN1A are associated with classic Rett syndrome: a case report. BMC Med Genet. (2018) 19: 184. 10.1186/s12881-018-0700-z 30305042 PMC6180591 · DOI
  46. [47]Selmer K Lund C Brandal K Undlien D Brodtkorb E. SCN1A mutation screening in adult patients with Lennox-Gastaut syndrome features. Epilepsy Behav. (2009) 16: 555– 7. 10.1016/j.yebeh.2009.08.021 19782004 · DOI
  47. [48]Saitoh M Shinohara M Hoshino H Kubota M Amemiya K Takanashi J. Mutations of the SCN1A gene in acute encephalopathy. Epilepsia. (2012) 53: 558– 64. 10.1111/j.1528-1167.2011.03402.x 22309220 · DOI
  48. [49]Ohashi T Akasaka N Kobayashi Y Magara S Kawashima H Matsumoto N. Infantile epileptic encephalopathy with a hyperkinetic movement disorder and hand stereotypies associated with a novel SCN1A mutation. Epileptic Disord. (2014) 16: 208– 12. 10.1684/epd.2014.0649 24776920 · DOI
  49. [50]Mercimek-Mahmutoglu S Patel J Cordeiro D Hewson S Callen D Donner E. Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. Epilepsia. (2015) 56: 707– 16. 10.1111/epi.12954 25818041 · DOI
  50. [52]Kwong A Ho A Fung C Wong V. Analysis of mutations in 7 genes associated with neuronal excitability and synaptic transmission in a cohort of children with non-syndromic infantile epileptic encephalopathy. PLoS ONE. (2015) 10: e0126446. 10.1371/journal.pone.0126446 25951140 PMC4423861 · DOI
  51. [53]Sadleir L Mountier E Gill D Davis S Joshi C DeVile C. Not all epileptic encephalopathies are Dravet syndrome: early profound Thr226Met phenotype. Neurology. (2017) 89: 1035– 42. 10.1212/WNL.0000000000004331 28794249 PMC5589790 · DOI · Paper page
  52. [54]Spagnoli C Frattini D Rizzi S Salerno G Fusco C. Early infantile SCN1A epileptic encephalopathy: expanding the genotype-phenotype correlations. Seizure. (2019) 65: 62– 4. 10.1016/j.seizure.2019.01.002 30612077 · DOI
  53. [55]Kelley S Kossoff E. Doose syndrome (myoclonic-astatic epilepsy): 40 years of progress. Dev Med Child Neurol. (2010) 52: 988– 93. 10.1111/j.1469-8749.2010.03744.x 20722665 · DOI
  54. [56]Doose H Gerken H Leonhardt R Völzke E Völz C. Centrencephalic myoclonic-astatic petit mal. Clinical and genetic investigation. Neuropadiatrie. (1970) 2: 59– 78. 10.1055/s-0028-1091841 5001125 · DOI
  55. [57]Berg AT Berkovic SF Brodie MJ Buchhalter J Cross JH Boas W. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE commission on classification and terminology, 2005-2009. Epilepsia. (2010) 51: 676– 85. 10.1111/j.1528-1167.2010.02522.x 20196795 · DOI · Paper page
  56. [58]Burgess R Wang S McTague A Boysen K Yang X Zeng Q. The genetic landscape of epilepsy of infancy with migrating focal seizures. Ann Neurol. (2019) 86: 821– 31. 10.1002/ana.25619 31618474 PMC7423163 · DOI · Paper page
  57. [59]Pavone P Polizzi A Marino S Corsello G Falsaperla R Marino S. West syndrome: a comprehensive review. Neurol Sci. (2020) 41: 3547– 62. 10.1007/s10072-020-04600-5 32827285 PMC7655587 · DOI
  58. [60]Al-Banji M Zahr D Jan M. Lennox-Gastaut syndrome. Management update. Neurosciences. (2015) 20: 207– 12. 10.17712/nsj.2015.3.20140677 26166587 PMC4710331 · DOI
  59. [61]Mastrangelo M. Lennox-Gastaut Syndrome: a state of the art review. Neuropediatrics. (2017) 48: 143– 51. 10.1055/s-0037-1601324 28346953 · DOI
  60. [62]Jia Y Lin Y Li J Li M Zhang Y Hou Y. KCNT1Quinidine Therapy for Lennox-Gastaut Syndrome With Mutation. A Case Report and Literature Review. Front Neurol. (2019) 10: 64. 10.3389/fneur.2019.00064 30804880 PMC6370615 · DOI
  61. [63]Yang L Jiang M Yu R Hu R Xiong F Li J. A case report of precocious puberty related to Rett syndrome and a literature review. Pharmazie. (2021) 76: 559– 61. 10.1691/ph.2021.1747 34782041 · DOI
  62. [64]Pejhan S Rastegar M. Role of DNA Methyl-CpG-Binding protein MeCP2 in rett syndrome pathobiology and mechanism of disease. Biomolecules. (2021) 11: 75. 10.3390/biom11010075 33429932 PMC7827577 · DOI
  63. [65]Guy J Gan J Selfridge J Cobb S Bird A. Reversal of Neurological Defects in a Mouse Model of Rett Syndrome. Science. (2007) 315: 1143– 7. 10.1126/science.1138389 17289941 PMC7610836 · DOI · Paper page
  64. [66]Liu X Shen Q Zheng G Guo H Lu X Wang X. Gene and Phenotype Expansion of Unexplained Early Infantile Epileptic Encephalopathy. Front Neurol. (2021) 12: 633637. 10.3389/fneur.2021.633637 34163418 PMC8215605 · DOI
  65. [67]Khaiboullina SF Mendelevich EG Martynova EV Davidyuk YN Giniatullin RA Rizvanov AA. Testing Genes Implicated in the Novel Case of Familial Hemiplegic Migraine. Bionanoscience. (2017) 7: 1– 4. 10.1007/s12668-016-0314-x · DOI
  66. [68]de Vries B Freilinger T Vanmolkot K Koenderink J Stam A Terwindt G. Systematic analysis of three FHM genes in 39 sporadic patients with hemiplegic migraine. Neurology. (2007) 69: 2170– 6. 10.1212/01.wnl.0000295670.01629.5a 18056581 · DOI
  67. [69]Omata T Takanashi JI Wada T Arai H Tanabe Y. Genetic diagnosis and acetazolamide treatment of familial hemiplegic migraine. Brain Dev. (2011) 33: 332– 4. 10.1016/j.braindev.2010.05.006 20542393 · DOI
  68. [70]Pietrobon D. Familial hemiplegic migraine. Neurotherapeutics. (2007) 4: 274– 84. 10.1016/j.nurt.2007.01.008 17395138 · DOI
  69. [71]Shao N Zhang H Wang X Zhang W Yu M Meng H. Familial hemiplegic migraine type 3 (FHM3) with an SCN1A mutation in a Chinese family: a case report. Front Neurol. (2018) 9: 976. 10.3389/fneur.2018.00976 30498473 PMC6249337 · DOI
  70. [72]Kowalska M Prendecki M Kapelusiak-Pielok M Grzelak T Łagan-Jedrzejczyk U Wiszniewska M. SCN1AAnalysis of Genetic Variants in SCN1A, SCN2A, KCNK18, TRPA1 and STX1A as a possible marker of migraine. Curr Genomics. (2020) 21: 224– 36. 10.2174/1389202921666200415181222 33071616 PMC7521035 · DOI
  71. [73]Zhang Y Chen N Zhou M Guo J Guo J He L. A novel SCN1A mutation identified in a Chinese family with familial hemiplegic migraine: A case report. Cephalalgia. (2017) 37: 1294– 8. 10.1177/0333102416677049 27919014 · DOI
  72. [74]Gargus JJ Tournay A. Novel Mutation Confirms Seizure Locus SCN1A is Also Familial Hemiplegic Migraine Locus FHM3. Pediatr Neurol. (2007) 37: 407– 10. 10.1016/j.pediatrneurol.2007.06.016 18021921 PMC2151385 · DOI
  73. [76]Vanmolkot K Babini E de Vries B Stam A Freilinger T Terwindt G. The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies. Hum Mutat. (2007) 28: 522. 10.1002/humu.9486 17397047 · DOI
  74. [77]Vahedi K Depienne C Le Fort D Riant F Chaine P Trouillard O. Elicited repetitive daily blindness: a new phenotype associated with hemiplegic migraine and SCN1A mutations. Neurology. (2009) 72: 1178– 83. 10.1212/01.wnl.0000345393.53132.8c 19332696 · DOI
  75. [78]Castro M Stam A Lemos C de Vries B Vanmolkot K Barros J. et al. First mutation in the voltage-gated Nav11 subunit gene SCN1A with co-occurring familial hemiplegic migraine and epilepsy. Cephalalgia. (2009) 29: 308– 13. 10.1111/j.1468-2982.2008.01721.x 19220312 · DOI
  76. [79]Frosk P Mhanni A Rafay M. SCN1A mutation associated with intractable myoclonic epilepsy and migraine headache. J Child Neurol. (2013) 28: 389– 91. 10.1177/0883073812443309 22550089 · DOI
  77. [80]Barros J Ferreira A Brandão A Lemos C Correia F Damásio J. Familial hemiplegic migraine due to L263V SCN1A mutation: discordance for epilepsy between two kindreds from Douro Valley. Cephalalgia. (2014) 34: 1015– 20. 10.1177/0333102414527015 24646837 · DOI
  78. [81]Schubert V Auffenberg E Biskup S Jurkat-Rott K Freilinger T. Two novel families with hemiplegic migraine caused by recurrent SCN1A mutation p.F1499L. Cephalalgia. (2017) 38: 1503– 8. 10.1177/0333102417742365 29145747 · DOI
  79. [82]Pelzer N Haan J Stam A Vijfhuizen L Koelewijn S Smagge A. Clinical spectrum of hemiplegic migraine and chances of finding a pathogenic mutation. Neurology. (2018) 90: e575– e82. 10.1212/WNL.0000000000004966 29343472 · DOI
  80. [83]Weller C Pelzer N de Vries B López M De Fàbregues O Pascual J. Two novel SCN1A mutations identified in families with familial hemiplegic migraine. Cephalalgia. (2014) 34: 1062– 9. 10.1177/0333102414529195 24707016 · DOI
  81. [84]Domitrz I Kosiorek M Zekanowski C Kamińska A. Genetic studies of Polish migraine patients: screening for causative mutations in four migraine-associated genes. Hum Genomics. (2016) 10: 3. 10.1186/s40246-015-0057-8 26747084 PMC4706665 · DOI
  82. [85]Fan C Wolking S Lehmann-Horn F Hedrich U Freilinger T Lerche H. Early-onset familial hemiplegic migraine due to a novel SCN1A mutation. Cephalalgia. (2016) 36: 1238– 47. 10.1177/0333102415608360 26763045 PMC5105328 · DOI
  83. [86]Chastan N Lebas A Legoff F Parain D Guyant-Marechal L. Clinical and electroencephalographic abnormalities during the full duration of a sporadic hemiplegic migraine attack. Neurophysiologie clinique. (2016) 46: 307– 11. 10.1016/j.neucli.2016.03.004 27155821 · DOI
  84. [87]Dube M Lakhotia AN Yadav V Jain R. Sporadic hemiplegic migraine with SCN1A gene mutation—a case report. US Neurology. (2018) 14: 108. 10.17925/USN.2018.14.2.108 · DOI
  85. [88]O'Roak B Deriziotis P Lee C Vives L Schwartz J Girirajan S. Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet. (2011) 43: 585– 9. 10.1038/ng.835 21572417 PMC3115696 · DOI · Paper page
  86. [89]Koshimizu E Miyatake S Okamoto N Nakashima M Tsurusaki Y Miyake N. Performance comparison of bench-top next generation sequencers using microdroplet PCR-based enrichment for targeted sequencing in patients with autism spectrum disorder. PLoS ONE. (2013) 8: e74167. 10.1371/journal.pone.0074167 24066114 PMC3774667 · DOI
  87. [90]Alvarez-Mora M Calvo Escalona R Puig Navarro O Madrigal I Quintela I Amigo J. Comprehensive molecular testing in patients with high functioning autism spectrum disorder. Mutation research. (2016) 784– 5: 46– 52. 10.1016/j.mrfmmm.2015.12.006 26845707 · DOI
  88. [91]Yin J Chun CA Zavadenko NN Pechatnikova NL Naumova OY Doddapaneni HV. Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression. Genes (Basel). (2020) 11: 853. 10.3390/genes11080853 32722525 PMC7463850 · DOI
  89. [92]Halvorsen M Petrovski S Shellhaas R Tang Y Crandall L Goldstein D. Mosaic mutations in early-onset genetic diseases. Genet Med. (2015) 18: 746– 9. 10.1038/gim.2015.155 26716362 PMC4929028 · DOI
  90. [93]Jaber D Gitiaux C Blesson S Marguet F Buard D Varela Salgado M. De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypes. J Med Genet. (2021) 58: 737– 42. 10.1136/jmedgenet-2020-107166 32928894 PMC8551978 · DOI
  91. [94]Laquerriere A Jaber D Abiusi E Maluenda J Mejlachowicz D Vivanti A. Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita. J Med Genet. (2021). 10.1136/jmedgenet-2020-107595. [Epub ahead of print]. 33820833 PMC9132874 · DOI
  92. [97]Li B Liu X Yi Y Deng Y Su T Zou X. Autism in Dravet syndrome: prevalence, features, and relationship to the clinical characteristics of epilepsy and mental retardation. Epilepsy Behav. (2011) 21: 291– 5. 10.1016/j.yebeh.2011.04.060 21620773 · DOI
  93. [98]Xiong Z Yi L Cao D He W Chen J Gao S. Dravet syndrome with autism inherited from a paternal mosaic heterozygous mutation on SCN1A. J Neurol Sci. (2016) 369: 53– 6. 10.1016/j.jns.2016.07.038 27653866 · DOI
  94. [100]McGuone D Crandall L Devinsky O. Sudden unexplained death in childhood: a neuropathology review. Front Neurol. (2020) 11: 582051. 10.3389/fneur.2020.582051 33178125 PMC7596260 · DOI
  95. [101]Lee B. Predicting sudden unexpected death in epilepsy. Neurology. (2021) 96: e2670– e2. 10.1212/WNL.0000000000012003 34031175 · DOI
  96. [102]Nashef L. Sudden unexpected death in epilepsy: terminology and definitions. Epilepsia. (1997) 38: S6– 8. 10.1111/j.1528-1157.1997.tb06130.x 19909329 · DOI
  97. [104]Baruteau AE Tester DJ Kapplinger JD Ackerman MJ Behr ER. Sudden infant death syndrome and inherited cardiac conditions. Nature Reviews Cardiology. (2017) 14: 715– 26. 10.1038/nrcardio.2017.129 28880023 · DOI
  98. [105]Neubauer J Lecca MR Russo G Bartsch C Medeiros-Domingo A Berger W. Post-mortem whole-exome analysis in a large sudden infant death syndrome cohort with a focus on cardiovascular and metabolic genetic diseases. Eur J Hum Genet. (2017) 25: 404– 9. 10.1038/ejhg.2016.199 28074886 PMC5386419 · DOI
  99. [106]Wedekind H Smits J Schulze-Bahr E Arnold R Veldkamp MW Bajanowski T. De Novo mutation in the SCN5A gene associated with early onset of sudden infant death. Circulation. (2001) 104: 1158– 64. 10.1161/hc3501.095361 11535573 · DOI
  100. [107]Hata Y Oku Y Taneichi H Tanaka T Igarashi N Niida Y. Two autopsy cases of sudden unexpected death from Dravet syndrome with novel de novo SCN1A variants. Brain Dev. (2020) 42: 171– 8. 10.1016/j.braindev.2019.10.005 31677916 · DOI
  101. [108]Genton P Velizarova R Dravet C. Dravet syndrome: the long-term outcome. Epilepsia. (2011) 52(Supplement s2): 44– 9. 10.1111/j.1528-1167.2011.03001.x 21463279 · DOI
  102. [109]Kalume F. Sudden unexpected death in Dravet syndrome: respiratory and other physiological dysfunctions. Respir Physiol Neurobiol. (2013) 189: 324– 8. 10.1016/j.resp.2013.06.026 23850567 PMC7213775 · DOI
  103. [110]Shmuely S Sisodiya SM Gunning WB Sander JW. Mortality in Dravet syndrome: a review. Epilepsy Behav. (2016) 64: 69– 74. 10.1016/j.yebeh.2016.09.007 27732919 · DOI
  104. [111]Maier SK Westenbroek RE Yamanushi TT Dobrzynski H Boyett MR Catterall WA. An unexpected requirement for brain-type sodium channels for control of heart rate in the mouse sinoatrial node. Proc Natl Acad Sci USA. (2003) 100: 3507– 12. 10.1073/pnas.2627986100 12631690 PMC152323 · DOI
  105. [112]Kalume F Westenbroek RE Cheah CS Yu FH Catterall WA. Sudden unexpected death in a mouse model of Dravet syndrome. J Clin Invest. (2013) 123: 1798– 808. 10.1172/JCI66220 23524966 PMC3613924 · DOI
  106. [113]Niles K Blaser S Shannon P Chitayat D. Fetal arthrogryposis multiplex congenita/fetal akinesia deformation sequence (FADS)-Aetiology, diagnosis, and management. Prenat Diagn. (2019) 39: 720– 31. 10.1002/pd.5505 31218730 · DOI
  107. [114]Lowry RB Sibbald B Bedard T Hall JG. Prevalence of multiple congenital contractures including arthrogryposis multiplex congenita in Alberta, Canada, and a strategy for classification and coding. Birth Defects Res A Clin Mol Teratol. (2011) 88: 1057– 61. 10.1002/bdra.20738 21157886 · DOI
  108. [115]Beecroft SJ Lombard M Mowat D McLean C Cairns A Davis M. Genetics of neuromuscular fetal akinesia in the genomics era. J Med Genet. (2018) 55: 505– 14. 10.1136/jmedgenet-2018-105266 29959180 · DOI

Cited by

Sorted by citations

Authors
Ding, J., Li, X., Tian, H., Wang, L., Guo, B., Wang, Y., Li, W., Wang, F., & Sun, T.
Affiliations
  • Ningxia Medical University (CN)
  • Fifth Affiliated Hospital of Zhengzhou University (CN)
  • First Affiliated Hospital of Zhengzhou University (CN)
  • First Affiliated Hospital of Xinxiang Medical University (CN)
  • First Affiliated Hospital Zhejiang University (CN)
Corresponding author
  • Li, Xinxiao
  • Wang, Feng
  • Sun, Tao
ORCID
Venue
Frontiers in Neurology
Publisher
Frontiers Media SA
Published
2021-12-24
Volume
12
Pages
743726-743726
ISSN
1664-2295 (ISSN-L)
DOI
10.3389/fneur.2021.743726
PMC
PMC8739186
OpenAlex
W4200550822
Cited by
121
References
7
Citations by year
2026: 21 · 2025: 33 · 2024: 35 · 2023: 21 · 2022: 10
FWCI
2.94
Type
journal article
Language
en
Open access
Licence
Locations
  • Frontiers in Neurology (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
Funders
Foundation for Innovative Research Groups of the National Natural Science Foundation of China
Topics
  • Health Sciences › Medicine › Psychiatry and Mental health › Epilepsy research and treatment
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Ion channel regulation and function
  • Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Pharmacological Effects and Toxicity Studies
Keywords
SCN1A mutations, Dravet syndrome, genetic epilepsy with febrile seizures plus, Doose syndrome, epilepsy of infancy with migrating focal seizures, West syndrome, Lennox-Gastaut syndrome, Rett syndrome, hemiplegic migraine, autism spectrum disorder, sudden unexpected death in epilepsy, arthrogryposis multiplex congenita, epileptic encephalopathy, sodium channel gene

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