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The Role Of Genetics In Febrile Convulsion Etiopathogenesis

Year 2017, Volume: 31 Issue: 1, 33 - 40, 26.05.2017

Enise Nur Özlem Semra Hız

Abstract








Febrile seizures are the most common
seizures of childhood, occurring in 2 to 5 percent of children six months to
five years of age. Febrile seizures are classified into simple and complex.
Febrile seizure has a multifactorial inheritance, suggesting that both
genetic and environmental factors are causative. A positive family history of
febrile seizures, which can be elicited in %34 of the patients, is a definite
risk factor for both a first febrile seizure and recurrent febrile seizures.
Genetic abnormalities have been reported in patients with febrile epilepsy
syndromes, such as severe myoclonic epilepsy in infancy (Dravet Syndrome) and
generalized epilepsy with febrile seizures plus. Genetic epilepsy with
febrile seizures plus is a complex autosomal dominant disorder usually caused
by mutations in SCN1A (a voltage-gated sodium channel). Dravet syndrome is
one of the most intractable forms of epilepsy that begins in infancy. In
literature, there are also several reported genes in association with febrile
seizures.


In this study, we aimed to review the
latest literature to emphasize the importance of genetic factors in the
etiopathogenesis of febrile seizures.



Keywords

Febrile seizure family medical history genetics

References

  • Referans1 B. Öztürk, B. Nalbantoğlu, E. Çelik Güzel, S. Hatipoğlu, A. Nalbantoğlu. Çocuk acil ünitesine febril konvülziyon tanısıyla başvuran beş ay-beş yaş arasındaki çocukların retrospektif olarak incelenmesi. Çocuk Dergisi 2011;11:114-121.
  • Referans2 Reese C. Graves, MD; Karen Oehler, MD, PhD; and Leslie E. Tingle, MD. Febrile seizures: risks, evaluation, and prognosis. American Family Physician 2012;85:149-153.
  • Referans3 Shinnar S, Glauser TA. Febrile seizures. J Child Neurol 2002;17:44-53.
  • Referans4 Yakut A. Febril Konvülziyon. 47. Milli Pediatri Kongresi Özet Kitabı 2003;s.53-7.
  • Referans5 İstanbul Üniversitesi Cerrahpaşa Tıp Fakültesi Pediatri Notları. Nörolojik hastalıklar 1. cilt: 19-21.
  • Referans6 Suga S, Suzuki K, Ihira M et al. Clinical characteristics of febrile convulsions during primary HHV-6 infection. Arch Dis Child 2000;82:62-6.
  • Referans7 Merkenschlager A. Therapeutische und diagnostische leitlinien beim fieberkampf im kindesalter. Kinder - und Jugendmedizin 2002;6:37-40.
  • Referans8 Apak S. Pediatrik Epileptoloji ve Antikonvülsif ilaç tedavisi. 1. baskı. İstanbul, Sanal Matbaacılık 1986;93-107.
  • Referans9 Steering Committee on Quality Improvementand Management Subcommittee on Febrile Seizures American Academy of Pediatrics. Febrileseizures: clinical practice guideline for the long-term management of the child with simple febrile seizures. Pediatrics 2008;121:1281–126.
  • Referans10 Practice parameter: long-term treatment of the child with simple febrile seizures. American Academy of Pediatrics. Committee on Quality Improvement, Subcommittee on Febrile Seizures. Pediatrics 1999;103 (6 pt 1):1307-9.
  • Referans11 Baumann RJ, Duffner PK. Treatment of children with simple febrile seizures: the AAP practice parameter. American Academy of Pediatrics Pediatr Neurol. 2000;23:11–17.
  • Referans12 Rosenbloom E, Finkelstein Y, Adams-Webber T, KozerE. Do antipyretics prevent the recurrence of febrile seizures in children? A systematic review of randomized controlled trials and meta-analysis. Eur J Paediatr Neurol 2013;17:585-588.
  • Referans13 Gökyiğit A, Çalışkan A. Prävalenz der Fiberkrämpfe in İstanbuler Grundschulen. Internationale Pädiatre 1988;19:69-73.
  • Referans14 Öztürk MK, Önal AE, Tümerdem Y, et al. Prevelance of febrile convulsions in a group of children aged 0 to 9 years in a slum in İstanbul. Medical Bulletin of İstanbul Medicine Faculty 2002;35:79-84.
  • Referans15 Okumura A, Uemura N, Suzuki M, Itomi K, Watanabe K. Unconsciousness and delirious behavior in children with febrile seizures. Pediatr Neurol 2004;30:316-9.
  • Referans16 Knudsen FU. Febrile seizures-treatment and outcome. Brain Dev 1996;18:438-49.
  • Referans17 Özmen M, Çalışkan M. Febril konvülziyonlar. İst Çocuk Klin Derg 1995;30:116-21.
  • Referans18 E. Özaydın, M. Z. Yaşar, A. Güven, A. Değerliyurt, S. Vidinlisan, G. Köse Febril konvülziyonlu 1385 vakanın klinik özellikleri ve risk faktörleri. Türkiye Çocuk Hastalıkları Dergisi 2011;5:11-18.
  • Referans19 Wallace SJ. Febrile seizures. Epilepsia 1996;2:28-33.
  • Referans20 Kölfen W, Pehle K, König S. Is the long-term outcome of following febrile convulsions favorable? Dev Med ChildNeurol 1998;40:667-71.
  • Referans21 Ling SG. Febrile convulsions: Acute seizures characteristics and anti-convulsant therapy. Annals of Tropical Ped . 2000;20:227-30.
  • Referans22 Ü. Yılmaz, R. Özdemir, T. Çelik, E. Ataş. Febril konvülziyonlu çocuklarda klinik ve paraklinik özellikler. Dicle Tıp Dergisi 2014;41:156-162.
  • Referans23 Hauser WA, Annegers JF, Anderson VE, Kurland LT. The risk of seizure disorders among relatives of children with febrile convulsions. Neurology 1985;35:1268-73.
  • Referans24 Berg AT, Shinnar S, Shapiro ED, Salomon ME, Crain EF, HauserWA. Risk factorsfor a first febrile seizure: a matched case-controlstudy. Epilepsia 1995;36:334-41.
  • Referans25 E. Töret, M. İnalhan, F. Yıldız, Ö. Temel, Ö Arslan. Çocuklarda Febril Konvülziyonların Değerlendirilmesi. Zeynep Kamil Tıp Bülteni 2010;41:65-72.
  • Referans26 Y. Şen, İ. Şengül, N. Arslan, N. Kabakuş. Febril Konvülziyonlar:265 Olgunun Analizi. Türkiye Klinikleri J Pediatr 2008,17:75-79.
  • Referans27 Robinson R, Gardiner M. Genetics of childhood epilepsy. Arch Dis Child 2000;82:121-5.
  • Referans28 Shinnar S, Berg AT, Moshe SL, O’Dell C, Alemany M, Newstein D et al. The risk of seizure recurrence following a first unprovoked seizure in childhood: An extended follow up. Pediatrics. 1996;98:216-25.
  • Referans29 Hanhan UA, Fiallos MR, Orlows ki JP. Status epilepticus. Pediatr Clin North Am 2001;48:683-9.
  • Referans30 Ş. Haspolat. Febril Konvülziyon. Türkiye Milli Pediatri Derneği Türkiye Çocuk Nörolojisi Derneği Ortak Kılavuzu 2014:19-25.
  • Referans31 Ç. Nuhoğlu, S. Aka, A. Türkmen, N. Karatoprak, A. Özgüner. Febril konvülziyon ve epileptik konvülziyonlarda aile öyküsü. Kartal Eğitim ve Araştırma Hastanesi Tıp Dergisi 2002;13:153-155.
  • Referans32 Nakayama J, Arinami T. Molecular genetics of febrile seizures. Epilepsy Res 2006;70:190-8.
  • Referans33 Nakayama J. Progress in searching for the febrile seizure susceptibility genes. Brain Dev. 2009;31:359-65. Referans34 http://www.omim.org/entry/121210?search=FEB1&highlight=feb1
  • Referans35 Virta M, Hurme M, Helminen M. Increased plasma levels of pro and anti-inflammatory cytokines in patients with febrile seizures. Epilepsia 2002;43:920-3.
  • Referans36 Haspolat S, Baysal Y, Duman O, Coskun M, Tosun O, Yegin O. Interleukin-1alfa, interleukin-1beta and interleukin-1Ra polymorphisms in febrile seizures. J Child Neurol 2005;20:565-8.
  • Referans37 H. Seğmen. İdyopatik jeneralize epilepsilerde genetiğin yeri ve SCN1A geninde D188V mutasyonu. Nöroloji Uzmanlık tezi 2005.
  • Referans38 A. Escayg, B. T. MacDonald, M. H. Meisler et al. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nat. Genet 2000;24:343-345.
  • Referans39 T. Sugawara, E. Mazaki-Miyazaki, M. Ito, H. Nagafuji et al. Na v1.1 mutations cause febrile seiuzures associated with a febrile partial seizures. Neurology 2001;57:703-705.
  • Referans40 L. Claes, J. Del-Favero, B. Ceulemans, L. Lagae, C. Van BroeckhovenandP. De Jonghe, De novo mutations in the sodium-channel gene SCN1 cause severe myoclonic epilepsy of infancy. Am. J Hum. Genet 2001;68:1327-1332.
  • Referans41 A. K. Alekov, M.M. Rahman, N. Mitrovic, F. Lehmann-Hornand H.Lerche. Enhanced inactivation and acceleration of activation of the sodium channel associated with epilepsy in man. Eur. J Neurosci 2001;13:2171-2176.
  • Referans42 C. Lossin, W.W. Dao, T.H. Rhodes, C.G. Vanoyeand A.L. George. Molecular basis of an inherited epilepsy. Neuron 2002;34:877-884.
  • Referans43 Ohmori I, Ouchida M, Ohtsuka Y, et al. Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy. Biochem Biophys Res Commun 2002;295:17-23.
  • Referans44 A. Akay, N.C. Sümer, Y. Uyanıkgil. İyon kanalları ve epilepsi patojenezindeki Rolleri 2010; Arşiv 19:72-84.
  • Referans45 M. Özmen, B. Tatlı, B. Ekici. Yenidoğan ve sütçocuğunun epileptik sendromları Türk Ped Arş 2011;46:191-5
  • Referans46 Okumura A, Watanabe K, Negoro T, et al. Long-term follow-up of patients with benign partial epilepsy in infancy Epilepsia 2006;47:181-5.
  • Referans47 Dravet C, Bureau M, Oguni H, et al. Severe myoclonic epilepsy in infancy: Dravet syndrome. Adv Neurol 2005;95:71-102.
  • Referans48 Singh R, Andermann E, Whitehouse WP, et al. Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+? Epilepsia 2001;42:837-44.
  • Referans49 Millichap JJ, Koh S, Laux LC, et al. Child Neurology: Dravet syndrome: when to suspect the diagnosis. Neurology 2009;13: e59-62.
  • Referans50 F. Önen. Familial Mediterranean fever. Rheumatology Internationa 2006;26:489- 496.
  • Referans51 E. Çomak, Ö. Tüfekçi, F. Kılıçbay, et al. Febrile seizures in children with familial Mediterranean fever: Coincidence or association? European Journal of Paediatric Neurology 2015;19:572-576.
  • Referans52 F. Özen, N. Koçak, S. Kelekçi, I.H. Yıldırım, G. Hacimuto, Ö. Özdemir. The prevalence of Familial Mediterranean Fever common gene mutations in patients with simple febrile seizures. European Review for Medical and Pharmacological Sciences 2014; 18:657-660.
  • Referans53 Giray O, et al. Role of Apoprotein E in febrile convulsions. Ped Neurol 2008;39(4):241-44.

Febril konvülziyon etyopatogenezinde genetiğin rolü

Year 2017, Volume: 31 Issue: 1, 33 - 40, 26.05.2017

Enise Nur Özlem Semra Hız

Abstract








Febril konvülziyon çocuklukta en sık
görülen kovülziyon tipidir ve altı ay ile beş yaş arasında %2-5 sıklıktadır.
Basit ve kompleks olarak sınıflandırılır. Febril konvülziyon multifaktöriyel
olarak genetik ve çevresel faktörlerin etkisinde kalıtılmaktadır. Aile öyküsü
hem ilk febril konvülziyon hem de tekrarlayan febril konvülziyonlar için risk
faktörüdür. Hastaların %34’ünde aile öyküsü pozitiftir. Febril epileptik
sendromlar için genetik anormallikler rapor edilmiştir bunlar; süt çocuğu
myoklonik epilepsisi(Dravet sendromu) ve Febril nöbetli jeneralize epilepsi
+‘dır. Febril nöbetli jeneralize epilepsi + SCN1A (voltaj-kapılı sodyum
kanalı)’daki mutasyonların kompleks otozomal dominant kalıtılmasıyla ortaya
çıkar. Dravet sendromu bebeklikte başlayan en dirençli epilepsilerden
biridir. Literatürde febril konvülziyonlarla ilişkili olduğu bildirilen başka
genler de vardır. 


Bu çalışmada febril konvülziyonların
etiyopatogenezinde genetik faktörlerin önemine vurgu yapmak üzere son
literatür bilgilerinin düzenlenmesi amaçlanmıştır.





Keywords

Febril konvülziyon aile öyküsü genetik

References

  • Referans1 B. Öztürk, B. Nalbantoğlu, E. Çelik Güzel, S. Hatipoğlu, A. Nalbantoğlu. Çocuk acil ünitesine febril konvülziyon tanısıyla başvuran beş ay-beş yaş arasındaki çocukların retrospektif olarak incelenmesi. Çocuk Dergisi 2011;11:114-121.
  • Referans2 Reese C. Graves, MD; Karen Oehler, MD, PhD; and Leslie E. Tingle, MD. Febrile seizures: risks, evaluation, and prognosis. American Family Physician 2012;85:149-153.
  • Referans3 Shinnar S, Glauser TA. Febrile seizures. J Child Neurol 2002;17:44-53.
  • Referans4 Yakut A. Febril Konvülziyon. 47. Milli Pediatri Kongresi Özet Kitabı 2003;s.53-7.
  • Referans5 İstanbul Üniversitesi Cerrahpaşa Tıp Fakültesi Pediatri Notları. Nörolojik hastalıklar 1. cilt: 19-21.
  • Referans6 Suga S, Suzuki K, Ihira M et al. Clinical characteristics of febrile convulsions during primary HHV-6 infection. Arch Dis Child 2000;82:62-6.
  • Referans7 Merkenschlager A. Therapeutische und diagnostische leitlinien beim fieberkampf im kindesalter. Kinder - und Jugendmedizin 2002;6:37-40.
  • Referans8 Apak S. Pediatrik Epileptoloji ve Antikonvülsif ilaç tedavisi. 1. baskı. İstanbul, Sanal Matbaacılık 1986;93-107.
  • Referans9 Steering Committee on Quality Improvementand Management Subcommittee on Febrile Seizures American Academy of Pediatrics. Febrileseizures: clinical practice guideline for the long-term management of the child with simple febrile seizures. Pediatrics 2008;121:1281–126.
  • Referans10 Practice parameter: long-term treatment of the child with simple febrile seizures. American Academy of Pediatrics. Committee on Quality Improvement, Subcommittee on Febrile Seizures. Pediatrics 1999;103 (6 pt 1):1307-9.
  • Referans11 Baumann RJ, Duffner PK. Treatment of children with simple febrile seizures: the AAP practice parameter. American Academy of Pediatrics Pediatr Neurol. 2000;23:11–17.
  • Referans12 Rosenbloom E, Finkelstein Y, Adams-Webber T, KozerE. Do antipyretics prevent the recurrence of febrile seizures in children? A systematic review of randomized controlled trials and meta-analysis. Eur J Paediatr Neurol 2013;17:585-588.
  • Referans13 Gökyiğit A, Çalışkan A. Prävalenz der Fiberkrämpfe in İstanbuler Grundschulen. Internationale Pädiatre 1988;19:69-73.
  • Referans14 Öztürk MK, Önal AE, Tümerdem Y, et al. Prevelance of febrile convulsions in a group of children aged 0 to 9 years in a slum in İstanbul. Medical Bulletin of İstanbul Medicine Faculty 2002;35:79-84.
  • Referans15 Okumura A, Uemura N, Suzuki M, Itomi K, Watanabe K. Unconsciousness and delirious behavior in children with febrile seizures. Pediatr Neurol 2004;30:316-9.
  • Referans16 Knudsen FU. Febrile seizures-treatment and outcome. Brain Dev 1996;18:438-49.
  • Referans17 Özmen M, Çalışkan M. Febril konvülziyonlar. İst Çocuk Klin Derg 1995;30:116-21.
  • Referans18 E. Özaydın, M. Z. Yaşar, A. Güven, A. Değerliyurt, S. Vidinlisan, G. Köse Febril konvülziyonlu 1385 vakanın klinik özellikleri ve risk faktörleri. Türkiye Çocuk Hastalıkları Dergisi 2011;5:11-18.
  • Referans19 Wallace SJ. Febrile seizures. Epilepsia 1996;2:28-33.
  • Referans20 Kölfen W, Pehle K, König S. Is the long-term outcome of following febrile convulsions favorable? Dev Med ChildNeurol 1998;40:667-71.
  • Referans21 Ling SG. Febrile convulsions: Acute seizures characteristics and anti-convulsant therapy. Annals of Tropical Ped . 2000;20:227-30.
  • Referans22 Ü. Yılmaz, R. Özdemir, T. Çelik, E. Ataş. Febril konvülziyonlu çocuklarda klinik ve paraklinik özellikler. Dicle Tıp Dergisi 2014;41:156-162.
  • Referans23 Hauser WA, Annegers JF, Anderson VE, Kurland LT. The risk of seizure disorders among relatives of children with febrile convulsions. Neurology 1985;35:1268-73.
  • Referans24 Berg AT, Shinnar S, Shapiro ED, Salomon ME, Crain EF, HauserWA. Risk factorsfor a first febrile seizure: a matched case-controlstudy. Epilepsia 1995;36:334-41.
  • Referans25 E. Töret, M. İnalhan, F. Yıldız, Ö. Temel, Ö Arslan. Çocuklarda Febril Konvülziyonların Değerlendirilmesi. Zeynep Kamil Tıp Bülteni 2010;41:65-72.
  • Referans26 Y. Şen, İ. Şengül, N. Arslan, N. Kabakuş. Febril Konvülziyonlar:265 Olgunun Analizi. Türkiye Klinikleri J Pediatr 2008,17:75-79.
  • Referans27 Robinson R, Gardiner M. Genetics of childhood epilepsy. Arch Dis Child 2000;82:121-5.
  • Referans28 Shinnar S, Berg AT, Moshe SL, O’Dell C, Alemany M, Newstein D et al. The risk of seizure recurrence following a first unprovoked seizure in childhood: An extended follow up. Pediatrics. 1996;98:216-25.
  • Referans29 Hanhan UA, Fiallos MR, Orlows ki JP. Status epilepticus. Pediatr Clin North Am 2001;48:683-9.
  • Referans30 Ş. Haspolat. Febril Konvülziyon. Türkiye Milli Pediatri Derneği Türkiye Çocuk Nörolojisi Derneği Ortak Kılavuzu 2014:19-25.
  • Referans31 Ç. Nuhoğlu, S. Aka, A. Türkmen, N. Karatoprak, A. Özgüner. Febril konvülziyon ve epileptik konvülziyonlarda aile öyküsü. Kartal Eğitim ve Araştırma Hastanesi Tıp Dergisi 2002;13:153-155.
  • Referans32 Nakayama J, Arinami T. Molecular genetics of febrile seizures. Epilepsy Res 2006;70:190-8.
  • Referans33 Nakayama J. Progress in searching for the febrile seizure susceptibility genes. Brain Dev. 2009;31:359-65. Referans34 http://www.omim.org/entry/121210?search=FEB1&highlight=feb1
  • Referans35 Virta M, Hurme M, Helminen M. Increased plasma levels of pro and anti-inflammatory cytokines in patients with febrile seizures. Epilepsia 2002;43:920-3.
  • Referans36 Haspolat S, Baysal Y, Duman O, Coskun M, Tosun O, Yegin O. Interleukin-1alfa, interleukin-1beta and interleukin-1Ra polymorphisms in febrile seizures. J Child Neurol 2005;20:565-8.
  • Referans37 H. Seğmen. İdyopatik jeneralize epilepsilerde genetiğin yeri ve SCN1A geninde D188V mutasyonu. Nöroloji Uzmanlık tezi 2005.
  • Referans38 A. Escayg, B. T. MacDonald, M. H. Meisler et al. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nat. Genet 2000;24:343-345.
  • Referans39 T. Sugawara, E. Mazaki-Miyazaki, M. Ito, H. Nagafuji et al. Na v1.1 mutations cause febrile seiuzures associated with a febrile partial seizures. Neurology 2001;57:703-705.
  • Referans40 L. Claes, J. Del-Favero, B. Ceulemans, L. Lagae, C. Van BroeckhovenandP. De Jonghe, De novo mutations in the sodium-channel gene SCN1 cause severe myoclonic epilepsy of infancy. Am. J Hum. Genet 2001;68:1327-1332.
  • Referans41 A. K. Alekov, M.M. Rahman, N. Mitrovic, F. Lehmann-Hornand H.Lerche. Enhanced inactivation and acceleration of activation of the sodium channel associated with epilepsy in man. Eur. J Neurosci 2001;13:2171-2176.
  • Referans42 C. Lossin, W.W. Dao, T.H. Rhodes, C.G. Vanoyeand A.L. George. Molecular basis of an inherited epilepsy. Neuron 2002;34:877-884.
  • Referans43 Ohmori I, Ouchida M, Ohtsuka Y, et al. Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy. Biochem Biophys Res Commun 2002;295:17-23.
  • Referans44 A. Akay, N.C. Sümer, Y. Uyanıkgil. İyon kanalları ve epilepsi patojenezindeki Rolleri 2010; Arşiv 19:72-84.
  • Referans45 M. Özmen, B. Tatlı, B. Ekici. Yenidoğan ve sütçocuğunun epileptik sendromları Türk Ped Arş 2011;46:191-5
  • Referans46 Okumura A, Watanabe K, Negoro T, et al. Long-term follow-up of patients with benign partial epilepsy in infancy Epilepsia 2006;47:181-5.
  • Referans47 Dravet C, Bureau M, Oguni H, et al. Severe myoclonic epilepsy in infancy: Dravet syndrome. Adv Neurol 2005;95:71-102.
  • Referans48 Singh R, Andermann E, Whitehouse WP, et al. Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+? Epilepsia 2001;42:837-44.
  • Referans49 Millichap JJ, Koh S, Laux LC, et al. Child Neurology: Dravet syndrome: when to suspect the diagnosis. Neurology 2009;13: e59-62.
  • Referans50 F. Önen. Familial Mediterranean fever. Rheumatology Internationa 2006;26:489- 496.
  • Referans51 E. Çomak, Ö. Tüfekçi, F. Kılıçbay, et al. Febrile seizures in children with familial Mediterranean fever: Coincidence or association? European Journal of Paediatric Neurology 2015;19:572-576.
  • Referans52 F. Özen, N. Koçak, S. Kelekçi, I.H. Yıldırım, G. Hacimuto, Ö. Özdemir. The prevalence of Familial Mediterranean Fever common gene mutations in patients with simple febrile seizures. European Review for Medical and Pharmacological Sciences 2014; 18:657-660.
  • Referans53 Giray O, et al. Role of Apoprotein E in febrile convulsions. Ped Neurol 2008;39(4):241-44.
There are 52 citations in total.

Details

Journal Section Articles
Authors

Enise Nur Özlem This is me

Semra Hız

Publication Date May 26, 2017
Submission Date February 12, 2015
Published in Issue Year 2017 Volume: 31 Issue: 1

Cite

Vancouver Özlem EN, Hız S. Febril konvülziyon etyopatogenezinde genetiğin rolü. DEU Tıp Derg. 2017;31(1):33-40.
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