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2013 | 21 | 1 | 5-13
Tytuł artykułu

Detection ofSCN1Amutations in patients with severe myoclonic epilepsy in infancy by custom resequence array

Treść / Zawartość
Warianty tytułu
Języki publikacji
EN
Abstrakty
EN
Introduction. Very few epilepsy phenotypes have been associated with causative genes; nevertheless, it is becoming possible, for some epilepsy phenotypes, to predict the most efficacious anti-epileptic drugs for patients based on their genetic makeup. The development of individualized medicine based on genetic information and the genetic diagnosis of epilepsy are expected to greatly improve the diagnosis and treatment of epilepsy. Here, we developed a DNA array (resequencing array) for the genetic diagnosis of epilepsies in which 14 epilepsy – related genes (SCN1A, SCN1B, CHRNA4, CHRNA7, CHRNB2, GABRA1, GABRD, GABRG2, CACNB4, CLCN2, KCNQ2, KCNQ3, CACNA1A, and CACNA1H) have been mounted. Aim. The aim of the present study is to evaluate the performance of our custom array in detecting the SCN1Amutations in patients with severe myoclonic epilepsy in infancy. Material and methods. We compared mutation data generated by DNA array sequencing of DNA samples from patients with severe myoclonic epilepsy in infancy to the data generated by capillary sequencing. Results. Heterozygosity was detected in 44 of 48 patients (92%). We successfully identified epilepsy mutations, and the results of DNA array analyses were largely consistent with the results of capillary sequencing analysis. Conclusion. These findings indicate that this DNA array is likely to be a useful tool in clinical settings.
Słowa kluczowe
EN
Wydawca

Rocznik
Tom
21
Numer
1
Strony
5-13
Opis fizyczny
Daty
wydano
2013-06-01
otrzymano
2012-05-24
zaakceptowano
2013-06-03
online
2015-03-01
Twórcy
  • Department of Neuropsychiatry, Hirosaki University Graduate School of Medicine, Hirosaki, Japan
  • Research Institute of Bio-system Informatics, Tohoku Chemical Co., Ltd. Morioka, Japan
  • Department of Integrated Human Sciences, Hamamatsu University School of Medicine, Hamamatsu, Japan
  • Department of Neuropsychiatry, Hirosaki University Graduate School of Medicine, Hirosaki, Japan
  • Research Institute of Bio-system Informatics, Tohoku Chemical Co., Ltd. Morioka, Japan
  • Department of Disability and Health, Division of Health Sciences, Hirosaki University Graduate School of Health Sciences, Hirosaki, Japan
  • Department of Pediatrics, School of Medicine, Fukuoka University, Fukuoka, Japan
autor
  • Department of Neuropsychiatry, Hirosaki University Graduate School of Medicine, Hirosaki, Japan, sk@cc.hirosaki-u.ac.jp
Bibliografia
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  • Claes L., Del-Favero J., Ceulemans B., Lagae L., Van Broeckhoven C., De Jonghe P.:De novo mutations in the sodiumchannel gene SCN1A cause severe myoclonic epilepsy of infancy. Am. J. Hum. Genet., 2001, 68: 1327–1332.[Crossref]
  • Claes L.R., Ceulemans B., Audenaert D., Deprez L., Jansen A., Hasaerts D. et al.: De novo KCNQ2 mutations in patients with benign neonatal seizures. Neurology, 2004, 63: 2155–2158.
  • Dravet C., Bureau M., Guerrini R., Giraud N., Roger J.:Severe myoclonic epilepsy in infants. In: J. Roger, M. Bureau, C. Dravet, F.E. Dreifuss, A. Perret, P. Wolf (Eds), Epileptic syndromes in infancy, childhood and adolescence. 2nd ed., John Libbey & Company Ltd, London 1992, 75–88.
  • Fujiwara T., Sugawara T., Mazaki-Miyazaki E., Takahashi Y., Fukushima K., Watanabe M. et al.: Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures. Brain, 2003, 126: 531–546.
  • Fukuma G., Oguni H., Shirasaka Y., Watanabe K., Miyajima T., Yasumoto S. et al.:Mutations of neuronal voltagegated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB). Epilepsia, 2004, 45: 140–148.
  • Gennaro E., Veggiotti P., Malacarne M., Madia F., Cecconi M., Cardinali S. et al.:Familial severe myoclonic epilepsy of infancy: truncation of Nav1.1 and genetic heterogeneity. Epileptic Disord., 2003, 5: 21–25.
  • Hacia J.G.:Resequencing and mutational analysis using oligonucleotide microarrays. Nat. Genet., 1999, 21: 42–47.[Crossref][PubMed]
  • Kaneko S,, Yoshida S., Kanai K., Yasui-Furukori N., Iwasa H.:Development of individualized medicine for epilepsy based on genetic information. Expert Rev. Clin. Pharmacol., 2008, 1: 661–681.[PubMed][Crossref]
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  • Kwan P., Brodie M.J.:Early identification of refractory epilepsy. Engl. J. Med., 2000, 342: 314–319.
  • Madia F., Striano P., Gennaro E., Malacarne M., Paravidino R., Biancheri R. et al.:Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy. Neurology, 2006, 10: 1230–1235.[Crossref]
  • Mulley J.C., Nelson P., Guerrero S., Dibbens L., Iona X., McMahon J.M. et al.:A new molecular mechanism for severe myoclonic epilepsy of infancy: exonic deletions in SCN1A. Neurology, 2006, 67: 1094–1095.[Crossref]
  • Nabbout R., Gennaro E., Dalla Bernardina B., Dulac O., Madia F., Bertini E. et al.:Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy. Neurology, 2003, 24: 1961–1967.[Crossref]
  • Nasir M., Olga V., Anthony M., Munir.:Exploring the genomic basis of pharmacoresistance in epilepsy: an integrative analysis of large-scale gene expression profiling studies on brain tissue from epilepsy surgery. Hum. Mol. Genet., 2011, 20: 4381–4394.[WoS][Crossref]
  • Ohmori I., Ouchida M., Ohtsuka Y., Oka E., Shimizu K.:Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy. Biochem. Biophys. Res. Commun., 2002, 295: 17–23.
  • Ottman R., Hirose S., Jain S., Lerche H., Lopes-Cendes I., Noebels J.L. et al.:Genetic testing in the epilepsies-report of the ILAE Genetics Commission. Epilepsia, 2010, 51: 655–670.[WoS][PubMed][Crossref]
  • Reid C.A., Berkovic S.F., Petrou S.:Mechanisms of human inherited epilepsies. Prog. Neurobiol., 2009, 87: 41–57.[Crossref][WoS][PubMed]
  • Saitoh M., Shinohara M., Hoshino H., Kubota M., Amemiya K., Takanashi J.L. et al.:Mutations of the SCN1A gene in acute encephalopathy. Epilepsia, 2012, 53: 558–564.[WoS][Crossref]
  • Shi L., Reid L.H., Jones W.D., Shippy R., Warrington J.A., Baker S.C. et al.:The MicroArray Quality Control (MAQC) project shows inter- and intraplatform reproducibility of gene expression measurements. Nat. Biotechnol., 2006, 24: 1151–1161.[PubMed][Crossref]
  • Steinlein O.K., Magnusson A., Stoodt J., Bertrand S., Weiland S., Berkovic S.F. et al.:An Insertion Mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy. Human. Mol. Genet., 1997, 6: 943–947.[Crossref]
  • Steinlein O.K., Mulley J.C., Propping P., Wallace R.H., Phillips H.A., Sutherland G.R. et al.:A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat. Genet., 1995, 11: 201–203.[PubMed][Crossref]
  • Sugawara T., Tsurubuchi Y., Agarwala K.L., Ito M., Fukuma G., Mazaki-Miyazaki E. et al.:A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction. Proc. Natl. Acad. Sci. USA, 2001, 98: 6384–6389.[Crossref]
  • Suls A., Claeys K.G., Goossens D., Harding B., Van Luijk R., Scheers S. et al.:Microdeletion involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients. Hum. Mutat., 2006, 27: 914–920.[Crossref]
  • Wang J.W., Kurahashi H., Ishii A., Kojima T., Ohfu M., Inoue T. et al.:Microchromosomal deletions involving SCN1A and adjacent genes in severe myoclonic epilepsy in infancy. Epilepsia, 2008, 49: 1528–1534.[Crossref][WoS]
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Typ dokumentu
Bibliografia
Identyfikatory
Identyfikator YADDA
bwmeta1.element.-psjd-doi-10_1515_joepi-2015-0001
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