Abstract:Febrile seizures are the most common nervous system disease in childhood, and most children have a good prognosis. However, some epilepsy cases are easily induced by fever and are characterized by "fever sensitivity", and it is difficult to differentiate such cases from febrile seizures. Epilepsy related to fever sensitivity includes hereditary epilepsy with febrile seizures plus, Dravet syndrome, and PCDH19 gene-related epilepsy. This article mainly describes the clinical manifestations of these three types of epilepsy and summarizes their clinical features in the early stage of disease onset, so as to achieve early identification, early diagnosis, and early intervention to improve prognosis.
Deng H, Zheng W, Song Z. The genetics and molecular biology of fever-associated seizures or epilepsy[J]. Expert Rev Mol Med, 2018, 20:e3. DOI:10.1017/erm.2018.2. PMID:29661262.
[3]
Scheffer IE, Berkovic SF. Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes[J]. Brain, 120(Pt 3):479-490. DOI:10.1093/brain/120.3.479. PMID:9126059.
[4]
Scheffer IE, Berg AT. Classification and clinical features of absence epilepsies:how evidence leads to changing concepts[J]. Epilepsia, 2008, 49(12):2140-2141. DOI:10.1111/j.1528-1167.2008.01904.x. PMID:19049570.
[5]
Engel J, International League Against Epilepsy (ILAE). A proposed diagnostic scheme for people with epileptic seizures and with epilepsy:report of the ILAE Task Force on Classification and Terminology[J]. Epilepsia, 2001, 42(6):796-803. DOI:10.1046/j.1528-1157.2001.10401.x. PMID:11422340.
[6]
Zhang YH, Burgess R, Malone JP, et al. Genetic epilepsy with febrile seizures plus refining the spectrum[J]. Neurology, 2017, 89(12):1210-1219. DOI:10.1212/WNL.0000000000004384. PMID:28842445.
[7]
Myers KA, Scheffer IE, Berkovic SF, et al. Genetic literacy series:genetic epilepsy with febrile seizures plus[J]. Epileptic Disord, 2018, 20(4):232-238. DOI:10.1684/epd.2018.0985. PMID:30078767.
Liu XW, Li WN, Han T, et al. The finding of a new heterozygous mutation site of the SCN2A gene in a monozygotic twin family carrying and exhibiting genetic epilepsy with febrile seizures plus (GEFS+) using targeted next-generation sequencing[J]. Clin Neurol Neurosurg, 2018, 169:86-91. DOI:10.1016/j.clineuro.2017.10.020. PMID:29635106.
Myers KA, Shevell MI, Sébire G. Sudden unexpected death in GEFS+ families with sodium channel pathogenic variants[J]. Epilepsy Res, 2019, 150:66-69. DOI:10.1016/j.eplepsyres.2019.01.009. PMID:30660056.
Shorvon S, Guerrini R, Schachter S, et al. The Causes of Epilepsy:Common and Uncommon Causes in Adults and Children[M]. 2nd ed. Cambridge:Cambridge University Press, 2019:154-157.
[16]
Wirrell EC, Laux L, Donner E, et al. Optimizing the diagnosis and management of Dravet syndrome:recommendations from a North American consensus panel[J]. Pediatr Neurol, 2017, 68:18-34.e3. DOI:10.1016/j.pediatrneurol.2017.01.025. PMID:28284397.
Wheless JW, Fulton SP, Mudigoudar BD. Dravet syndrome:a review of current management[J]. Pediatr Neurol, 2020, 107:28-40. DOI:10.1016/j.pediatrneurol.2020.01.005. PMID:32165031.
[20]
Esterhuizen AI, Mefford HC, Ramesar RS, et al. Dravet syndrome in South African infants:tools for an early diagnosis[J]. Seizure, 2018, 62:99-105. DOI:10.1016/j.seizure.2018.09.010. PMID:30321769. PMCID:PMC6261486.
[21]
Mei D, Cetica V, Marini C, et al. Dravet syndrome as part of the clinical and genetic spectrum of sodium channel epilepsies and encephalopathies[J]. Epilepsia, 2019, 60(S3):S2-S7. DOI:10.1111/epi.16054. PMID:31904125.
[22]
Cross JH, Caraballo RH, Nabbout R, et al. Dravet syndrome:treatment options and management of prolonged seizures[J]. Epilepsia, 2019, 60(S3):S39-S48. DOI:10.1111/epi.16334. PMID:31904119.
[23]
Wirrell EC, Nabbout R. Recent advances in the drug treatment of Dravet syndrome[J]. CNS Drugs, 2019, 33(9):867-881. DOI:10.1007/s40263-019-00666-8. PMID:31549357.
Darra F, Battaglia D, Dravet C, et al. Dravet syndrome:early electroclinical findings and long-term outcome in adolescents and adults[J]. Epilepsia, 2019, 60(S3):S49-S58. DOI:10.1111/epi.16297. PMID:31904122.
[27]
de Lange IM, Gunning B, Sonsma ACM, et al. Outcomes and comorbidities of SCN1A-related seizure disorders[J]. Epilepsy Behav, 2019, 90:252-259. DOI:10.1016/j.yebeh.2018.09.041. PMID:30527252.
[28]
Cetica V, Chiari S, Mei D, et al. Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations[J]. Neurology, 2017, 88(11):1037-1044. DOI:10.1212/WNL.0000000000003716. PMID:28202706. PMCID:PMC5384833.
[29]
Xu XJ, Zhang YH, Sun HH, et al. Early clinical features and diagnosis of Dravet syndrome in 138 Chinese patients with SCN1A mutations[J]. Brain Dev, 2014, 36(8):676-681. DOI:10.1016/j.braindev.2013.10.004. PMID:24168886.
[30]
Hattori J, Ouchida M, Ono J, et al. A screening test for the prediction of Dravet syndrome before one year of age[J]. Epilepsia, 2008, 49(4):626-633. DOI:10.1111/j.1528-1167.2007.01475.x. PMID:18076640.
[31]
de Lange IM, Gunning B, Sonsma ACM, et al. Influence of contraindicated medication use on cognitive outcome in Dravet syndrome and age at first afebrile seizure as a clinical predictor in SCN1A-related seizure phenotypes[J]. Epilepsia, 2018, 59(6):1154-1165. DOI:10.1111/epi.14191. PMID:29750338.
[32]
Gecz J, Thomas PQ. Disentangling the paradox of the PCDH19 clustering epilepsy, a disorder of cellular mosaics[J]. Curr Opin Genet Dev, 2020, 65:169-175. DOI:10.1016/j.gde.2020.06.012. PMID:32726744.
[33]
Yang L, Liu J, Su QP, et al. Novel and de novo mutation of PCDH19 in girls clustering epilepsy[J]. Brain Behav, 2019, 9(12):e01455. DOI:10.1002/brb3.1455. PMID:31714027. PMCID:PMC6908879.
Trivisano M, Pietrafusa N, Terracciano A, et al. Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy:a multicenter study[J]. Epilepsia, 2018, 59(12):2260-2271. DOI:10.1111/epi.14600. PMID:30451291.
[39]
Liu A, Xu X, Yang X, et al. The clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population[J]. Clin Genet, 2017, 91(1):54-62. DOI:10.1111/cge.12846. PMID:27527380.
[40]
Trivisano M, Pietrafusa N, Ciommo Vd, et al. PCDH19-related epilepsy and Dravet Syndrome:face-off between two early-onset epilepsies with fever sensitivity[J]. Epilepsy Res, 2016, 125:32-36. DOI:10.1016/j.eplepsyres.2016.05.015. PMID:27371789.
[41]
Chemaly N, Losito E, Pinard JM, et al. Early and long-term electroclinical features of patients with epilepsy and PCDH19 mutation[J]. Epileptic Disord, 2018, 20(6):457-467. DOI:10.1684/epd.2018.1009. PMID:30530412.
[42]
Smith L, Singhal N, El Achkar CM, et al. PCDH19-related epilepsy is associated with a broad neurodevelopmental spectrum[J]. Epilepsia, 2018, 59(3):679-689. DOI:10.1111/epi.14003. PMID:29377098. PMCID:PMC6264912.
[43]
Trivisano M, Lucchi C, Rustichelli C, et al. Reduced steroidogenesis in patients with PCDH19-female limited epilepsy[J]. Epilepsia, 2017, 58(6):e91-e95. DOI:10.1111/epi.13772. PMID:28471529.
Higurashi N, Takahashi Y, Kashimada A, et al. Immediate suppression of seizure clusters by corticosteroids in PCDH19 female epilepsy[J]. Seizure, 2015, 27:1-5. DOI:10.1016/j.seizure.2015.02.006. PMID:25891919.