From focal epilepsy to dravet syndrome –heterogeneity of the phenotype due to SCN1A mutations of the p.Arg1596 amino acid residue in the nav1.1 subunit

Neurologia i Neurochirurgia Polska

Volumn 49, Issue 4, 2015, Pages 258-266

  Hoffman Zacharska, Dorota ^a,b   Szczepanik, Elżbieta ^a   Terczynska, Iwona ^a   Goszczanska Ciuchta, Alicja ^a   Zalewska Miszkurka, Zofia ^a   Tataj, Renata ^a   Bal, Jerzy ^a  

^a Institute of Mother and Child   (Poland)

^b UNIVERSITY OF WARSAW   (Poland)

Author keywords

Dravet syndrome; Focal epilepsy; GEFS+; Panayiotopoulos syndrome; SCN1A

Indexed keywords

AMINO ACID; CARBAMAZEPINE; ETIRACETAM; GENOMIC DNA; LAMOTRIGINE; OXCARBAZEPINE; SODIUM CHANNEL NAV1.1; VALPROIC ACID; NAV1.1 VOLTAGE-GATED SODIUM CHANNEL; SCN1A PROTEIN, HUMAN;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; ASPERGER SYNDROME; CHILD; CLINICAL ARTICLE; CLINICAL ASSESSMENT; COGNITIVE DEVELOPMENT; COMPLEX PARTIAL SEIZURE; ELECTROENCEPHALOGRAPHY; EPILEPTIC STATE; EXON; FEBRILE CONVULSION; FEMALE; GENE; GENE SEQUENCE; GENERALIZED EPILEPSY; GENETIC HETEROGENEITY; HUMAN; MALE; MIDDLE AGED; MISSENSE MUTATION; MONOTHERAPY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PANAYIOTOPOULOS SYNDROME; PENETRANCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; SCHOOL CHILD; SCN1A GENE; SEVERE MYOCLONIC EPILEPSY IN INFANCY; TONIC CLONIC SEIZURE; CHILD, PRESCHOOL; EPILEPSIES, MYOCLONIC; EPILEPSIES, PARTIAL; GENETICS; HUMANS; PEDIGREE; PHYSIOPATHOLOGY; YOUNG ADULT;

ADULT; CHILD; CHILD, PRESCHOOL; EPILEPSIES, MYOCLONIC; EPILEPSIES, PARTIAL; FEMALE; HUMANS; MALE; MIDDLE AGED; NAV1.1 VOLTAGE-GATED SODIUM CHANNEL; PEDIGREE; PHENOTYPE; YOUNG ADULT;

EID: 84940104007     PISSN: 00283843     EISSN: 18974260     Source Type: Journal    
DOI: 10.1016/j.pjnns.2015.06.006     Document Type: Article

References (31)

1. Harkin LA, McMahon JM, Iona X, Dibbens L, Pelekanos JT, Zuberi SM, et al. The spectrum of SCN1A-related infantile epileptic encephalopathies. Brain 2007;130:843–52
2. Wallace RH, Hodgson BL, Gardiner RM, Robinson R, Rodriguez-Casero V, Sadler L, et al. Sodium channel a1- subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms. Neurology 2003;61:765–9
3. Selmer KK, Lund C, Brandal K, Undlien DE, Brodtkorb E. SCN1A mutation screening in adult patients with Lennox– Gastaut syndrome features. Epilepsy Behav 2009;16:555–7
4. Ohomor I, Ouchida M, Kobayashi K, Jitsumori Y, Inoue T, Shimizu K, et al. Rasmussen encephalitis associated with SCN1A mutation. Epilepsia 2008;49:521–6
5. Livingston JH, Cross JH, Mclellan A, Birch R, Zuberi SM. A novel inherited mutation in the voltage sensor region of SCN1A is associated with Panayiotopoulos syndrome in siblings and generalized epilepsy with febrile seizures plus. J Child Neurol 2009;24:503–8
6. Gargus JJ, Tournay A. Novel mutation confirms seizure locus SCN1A is also familial hemiplegic migraine locus FHM3. Pediatr Neurol 2007;37:407–10
7. Weiss L, Escayg A, Kearney JA, Trudeau M, MacDonald BT, Mori M, et al. Sodium channels SCN1A, SCN2A and SCN3A in familial autism. Mol Psychiatry 2003;8:186–94
8. Mulley JC, Hodgson B, McMahon JM, Iona X, Bellows S, Mullen SA, et al. Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome. Epilepsia 2013;54:122–6
9. Ohmori I, Ouchida M, Kobayashi K, Jitsumori Y, Mori A, Michiue H, et al. CACNA1A variants may modify the epileptic phenotype of Dravet syndrome. Neurobiol Dis 2013;50:209–17
10. Engel Jr J. ILAE Commission Report. A proposed diagnostic scheme for people with epileptic seizures and epilepsy. Report of the ILAE task force on classification and terminology. Epilepsia 2001;42:796–803
11. Berg AT, Berkovic SF, Brodie MJ, et al. Revised terminology and concept for organization of seizures and epilepsies: report of ILAE Commission on Classification and Terminology, 2005–2009. Epilepsia 2010;51:676–85
12. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, et al. A method and server for predicting damaging missense mutations. Nat Methods 2010;7:248–9
13. Schwarz JM, Rödelsperger C, Schuelke M, Seelow D. MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods 2010;7(8):575–6
14. Mathe E, Olivier M, Kato S, Ishioka C, Hainaut P, Tavtigian SV. Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods. Nucleic Acids Res 2006;34:1317–25
15. Zuberi SM, Brunklaus A, Birch R, Reavey E, Duncan J, Forbes GH. Genotype-phenotype associations in SCN1A-related epilepsies. Neurology 2011;76:594–600
16. Dlugos DJ, Ferraro TN, Russell JB. Novel De Novo mutation of a conserved SCN1A amino-acid residue (R1596). Pediatr Neurol 2007;37:303–5
17. Depienne C, Trouillard O, Saint-Martin C, Gourfinkel-An I, Bouteiller D, Carpentier W, et al. Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. J Med Genet 2009;46(March): 183–91
18. Cherepanova NS, Leslie E, Ferguson PJ, Bamshad MJ, Bassuk AG. Presence of epilepsy-associated variants in large exome databases. J Neurogenet 2013;27:1–4
19. Haerian BS, Baum L. GBRG2 rs211037 polymorphism and epilepsy: asystematic review and meta-analysis. Seizure 2013;22:53–8
20. Lakhan R, Kumari R, Misra UK, Kalita J, Pradhan S, Mittal B. Differential role of sodium channels SCN1A and SCN2A gene polymorphisms with epilepsy and multiple drug resistance in the north Indian population. Br J Clin Pharmacol 2009;68(2):214–20
21. Haerian BS, Baum L, Kwan P, Tan HJ, Raymond AA, Mohamed Z. SCN1A, SCN2A, SCN3A gene polymorphisms and responsiveness to antiepileptic drugs: a multicenter cohort study and meta-analysis. Pharmacogenomics 2013;14(10):1153–66
22. Klassen T, Davis C, Goldman A, Burgess D, Chen T, Wheeler D, et al. Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy. Cell 2011;145:1036–48
23. Ito M, Nagafuji H, Okazawa H, Yamakawa K, Sugawara T, Mazaki-Miyazaki E, et al. Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel alpha 1 subunit gene, SCN1A. Epilepsy Res 2002;48:15–23
24. Ceulemans BPGM, Claes LRF, Lagae LG. Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy. Pediatr Neurol 2004;30:236–43
25. Buoni S, Orrico A, Galli L, Zannolli R, Burroni L, Hayek J, et al. (2528delG) novel truncating mutation with benign outcome of severe myoclonic epilepsy of infancy. Neurology 2006;2(2):606–7
26. Michael M, Tsatsou K, Ferrie CD. Panayiotopoulos syndrome: an important childhood autonomic epilepsy to be differentiated from occipital epilepsy and acute non-epileptic disorders. Brain Dev 2010;32(Jan):4–9
27. Gobbi G, Boni A, Filippini M. The spectrum of idiopathic Rolandic epilepsy syndromes and idiopathic occipital epilepsies: from the benign to the disabling. Epilepsia 2006;47(Suppl. 2):62–6
28. Lossin Ch. A catalog of SCN1A variants. Brain Dev 2009;31:114–30
29. Cordelli DM, Aldrovandi A, Gentile V, Garone C, Conti S, Aceti A, et al. Fever as a seizure precipitant factor in Panayiotopoulos syndrome: a clinical and genetic study. Seizure 2012;21:141–3
30. Grosso S, Orrico A, Galli L, Di Bartolo R, Sorrentino V, Balestri P. SCN1A mutation associated with atypical Panayiotopoulos syndrome. Neurology 2007;69:609–11
31. Dunnen JT. Antonarakis SE mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 2000;15:7–12.