Clinical correlations of mutations in the SCN1A gene: From febrile seizures to severe myoclonic epilepsy in infancy

Pediatric Neurology

Volumn 30, Issue 4, 2004, Pages 236-243

  Ceulemans, Berten P G M ^a,b,c   Claes, Lieve R F ^a   Lagae, Lieven G ^c,d  

^a UNIVERSITY OF ANTWERP   (Belgium)

^b ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^c Epilepsy Center for Children and Youth   (Belgium)

^d UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

VOLTAGE GATED SODIUM CHANNEL;

ARTICLE; BENIGN CHILDHOOD EPILEPSY; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DRAVET SYNDROME; FEBRILE CONVULSION; GENE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INFANT; MEDICAL LITERATURE; MISSENSE MUTATION; MYOCLONUS EPILEPSY; PRIORITY JOURNAL; PUBLICATION;

CHILD; CHILD, PRESCHOOL; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; ELECTROENCEPHALOGRAPHY; EPILEPSIES, MYOCLONIC; EPILEPSY, GENERALIZED; EXONS; FEMALE; FRAMESHIFT MUTATION; GENOTYPE; HUMANS; INFANT; MALE; MENTAL RETARDATION; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; PHENOTYPE; SEIZURES, FEBRILE; SODIUM CHANNELS; SYNDROME;

EID: 1842850796     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2003.10.012     Document Type: Article

References (36)

1. Dravet C. Les épilepsies graves de l'enfant. Vie Méd. 8:1978;543-548.
2. Engel J. International League Against Epilepsy (ILAE) Commission Report. Epilepsia. 42:2001;796-803.
3. Dravet C, Bureau M, Oguni H, Fukuyama Y, Cokar O. Severe myoclonic epilepsy in infancy (Dravet syndrome). In: Roger J, Bureau M, Dravet C, Genton P, Tassinari CA, Wolf P, editors. Epileptic syndromes in infancy, childhood and adolescence, 3rd ed. Eastleigh, UK: John Libbey & Co. Ltd, 2002:81-103
4. 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. 68:2001;1327-1332.
5. Sugawara T., Mazaki-Miyazaki E., Fukushima K., et al. Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy. Neurology. 58:2002;1122-1124.
6. 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. 295:2002;17-23.
7. Claes L., Ceulemans B., Audenaert D., et al. De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy. Human Mutation. 21:2003;615-621.
8. Scheffer I., Berkovic S. Generalized epilepsy with febrile seizures plus A genetic disorder with heterogeneous clinical phenotypes. Brain. 120:1997;479-490.
9. +-channel β1-subunit gene SCN1B. Nat Genet. 19:1998;366-370.
10. Singh R., Andermann E., Whitehouse W.P.A., et al. Severe myoclonic epilepsy of infancy Extended spectrum of GEFS+? Epilepsia. 42:2001;837-844.
11. v1.1 mutations cause febrile seizures associated with afebrile partial seizures. Neurology. 57:2001;703-705.
12. Wallace R.H., Marini C., Petrou S., et al. Mutant GABA A receptor γ2-subunit in childhood absence epilepsy and febrile seizures. Nat Genet. 28:2001;49-52.
13. A-receptor γ2- subunit in a family with generalized epilepsy with febrile seizures Plus. Am J Hum Genet. 70:2002;530-536.
14. Marini C., Harkin L.A., Wallace R.H., Mulley J.C., Scheffer I.E., Berkovic S.F. Childhood absence epilepsy and febrile seizures A family with a GABA A receptor mutation. Brain. 126:2003;230-240.
15. Wallace R.H., Scheffer I.E., Barnett S., et al. Neuronal sodium-channel α1-subunit mutations in generalized epilepsy with febrile seizures plus. Am J Hum Genet. 68:2001;859-865.
16. Wallace R.H., Scheffer I.E., Parasivam G., et al. Generalized epilepsy with febrile seizures plus Mutation of the sodium channel subunit SCN1B. Neurology. 58:2002;1426-1429.
17. Escayg A., MacDonald B.T., Meisler M.H., et al. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nat Genet. 24:2000;343-345.
18. Escayg A., Heils A., MacDonald B.T., Haug K., Sander T., Meisler M.H. A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus and prevalence of variants in patients with epilepsy. Am J Hum Genet. 68:2001;866-873.
19. Abou-Khalil B., Ge Q., Desai R., et al. Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation. Neurology. 57:2001;2265-2272.
20. Lossin C., Wang D.W., Rhodes T.H., Vanoye C.G., George A.L. Molecular basis of an inherited epilepsy. Neuron. 34:2002;877-884.
21. Spampanato J., Escayg A., Meisler M.H., Goldin A.L. Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2. J Neurosci. 21:2001;7481-7490.
22. Baulac S., Huberfeld G., Gourfinkel-An I., et al. First genetic evidence of GABA A receptor dysfunction in epilepsy A mutation in the γ2-subunit gene. Nat Genet. 28:2001;46-48.
23. v1.2 in a patient with febrile and afebrile seizures causes channel dysfunction. PNAS. 98:2001;6384-6389.
24. Ophoff R.A., Terwindt G.M., Frants R.R., Ferrari M.D. P/Q-type Ca2+ channel defects in migraine, ataxia and epilepsy. (Review). Trends Pharmacol Sci. 19:1998;121-127.
25. Lopes-Cendes I., Scheffer I.E., Berkovic S.F., Rousseau M., Andermann E., Rouleau G.A. A new locus for generalized epilepsy with febrile seizures plus maps to chromosome 2. Am J Hum Genet. 66:2000;698-701.
26. Baulac S., Gourfinkel-An I., Picard F., et al. A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33. Am J Hum Genet. 65:1999;1078-1085.
27. Moulard B., Guipponi M., Chaigne D., Mouthon D., Buresi C., Malafosse A. Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q33. Am J Hum Genet. 65:1999;1396-1400.
28. Singh R., Andermann E., Whitehouse W.P., et al. Severe myoclonic epilepsy of infancy Extended spectrum of GEFS+? Epilepsia. 42:2001;837-844.
29. Doose H., Lunau H., Castiglione E., Waltz S. Severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures. Neuropediatrics. 29:1998;229-238.
30. Kanazawa O. Refractory grand mal seizures with onset during infancy including severe myoclonic epilepsy in infancy. Brain Devel. 23:2001;749-756.
31. Nieto-Barrera M., Candau R., Nieto-Jimenez M., Correa A., del Portal L.R. Topiramate in the treatment of severe myoclonic epilepsy in infancy. Seizure. 9:2000;590-594.
32. Chiron C., Marchand M.C., Tran A., et al. Stiripentol in severe myoclonic epilepsy in infancy A randomised placebo-controlled syndrome-dedicated trial. STICLO study group. Lancet. 356:(9242):2000;1638-1642.
33. Coppola G., Capovilla G., Montagnini A., et al. Topiramate as add-on drug in severe myoclonic epilepsy in infancy An Italian multicenter open trial. Epilepsy Res. 49:2002;45-48.
34. Alekov A.K., Rahman M., Mitrovic N., Lehmann-Horn F., Lerche H. Short communication. Enhanced inactivation and acceleration of activation of the sodium channel associated with epilepsy in man. Eur J Neurosci. 13:2001;2171-2176.
35. Alekov AK, Rahman M, Mitrovic N, Lehmann-Horn F, Lerche H. Rapid Report. A sodium channel mutation causing epilepsy in man exhibits subtle defects in fast inactivation and activation in vitro. J Physiol 2000;529:533-9
36. Spampanato J., Escayg A., Meisler M.H., Goldin A.L. Generalized epilepsy with febrile seizures plus type 2 mutation W1204R alters voltage-dependent gating of Na(v) 1.1 sodium channels. Neuroscience. 16:2003;37-48.