One novel Dravet syndrome causing mutation and one recurrent MAE causing mutation in SCN1A gene

Neuroscience Letters

Volumn 494, Issue 2, 2011, Pages 180-183

  Yordanova, Iglika ^a,b   Todorov, Tihomir ^b   Dimova, Petia ^c   Hristova, Dimitrina ^d   Tincheva, Radka ^c   Litvinenko, Ivan ^c   Yotovska, Olga ^e   Kremensky, Ivo ^a   Todorova, Albena ^b  

^a MEDICAL UNIVERSITY OF SOFIA   (Bulgaria)

^b Genetic Medico Diagnostic Laboratory Genica   (Bulgaria)

^c UNIVERSITY HOSPITAL ALEXANDROVSKA   (Bulgaria)

^d Tokuda Hospital   (Bulgaria)

^e Institute for Mental Health of Children and Youth   (Macedonia)

Author keywords

Dravet syndrome; Epilepsy; MAE; Mutations; SCN1A gene

Indexed keywords

CLONAZEPAM; CORTICOTROPIN; ETIRACETAM; GENOMIC DNA; LAMOTRIGINE; TOPIRAMATE; VALPROIC ACID; VOLTAGE GATED SODIUM CHANNEL;

ANAMNESIS; ANTICONVULSANT THERAPY; ARTICLE; BRAIN CORTEX ATROPHY; CASE REPORT; CHILD; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; DISEASE SEVERITY; DRUG SUBSTITUTION; DRUG WITHDRAWAL; ELECTROENCEPHALOGRAPHY; FEMALE; FRAMESHIFT MUTATION; GENE; HETEROZYGOSITY; HUMAN; HUMAN CELL; KETOGENIC DIET; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; MYOCLONIC ASTATIC EPILEPSY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SCN1A GENE; SEVERE MYOCLONIC EPILEPSY IN INFANCY; TREATMENT RESPONSE;

AGE OF ONSET; ANTICONVULSANTS; CHILD; CHILD, PRESCHOOL; ELECTROENCEPHALOGRAPHY; EPILEPSIES, MYOCLONIC; FEMALE; FRAMESHIFT MUTATION; HUMANS; INFANT; MALE; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; PHENOTYPE; SODIUM CHANNELS;

EID: 79953268292     PISSN: 03043940     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.neulet.2011.03.008     Document Type: Article

References (36)

1. Catterall W.A. From ionic currents to molecular mechanisms: the structure and function of voltage-gated sodium channels. Neuron 2000, 26(1):13-25.
2. Ceulemans B.P., Claes L.R., Lagae L.G. Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy. Pediatr. Neurol. 2004, 30(4):236-423.
3. Claes L., Ceulemans B., Audenaert D., Smets K., Löfgren A., Del-Favero J., Ala-Mello S., Basel-Vanagaite L., Plecko B., Raskin S., Thiry P., Wolf N.I., Van Broeckhoven C., De Jonghe P. De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy. Hum. Mutat. 2003, 21(6):615-621.
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. 2001, 68(6):1327-1332.
5. Depienne C., Arzimanoglou A., Trouillard O., Fedirko E., Baulac S., Saint-Martin C., Ruberg M., Dravet C., Nabbout R., Baulac M., Gourfinkel-An I., LeGuern E. Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy. Hum. Mutat. 2006, 27(April (4)):389.
6. Depienne C., Trouillard O., Saint-Martin C., Gourfinkel-An I., Bouteiller D., Carpentier W., Keren B., Abert B., Gautier A., Baulac S., Arzimanoglou A., Cazeneuve C., Nabbout R., LeGuern E. Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. J. Med. Genet. 2009, 46:183-191.
7. Dichgans M., Freilinger T., Eckstein G., Babini E., Lorenz-Depiereux B., Biskup S., Ferrari M.D., Herzog J., van den Maagdenberg A.M., Pusch M., Strom T.M. Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine. Lancet 2005, 6(9483):371-377.
8. Dimova P.S., Yordanova I., Bojinova V., Jordanova A., Kremensky I. Generalized epilepsy with febrile seizures plus: novel SCN1A mutation. Pediatr Neurol. 2010, 42(2):137-140.
9. Doose H., Baier W.K. Epilepsy with primarily generalized myoclonic-astatic seizures: a genetically determined disease. Eur. J. Pediatr. 1987, 146:550-554.
10. Dravet C., Bureau M., Oguni H., Fukuyama Y., Cokar O. Severe myoclonic epilepsy in infancy: Dravet syndrome. Adv. Neurol. 2005, 95:71-102.
11. Ebach K., Joos H., Doose H., Stephani U., Kurlemann G., Fiedler B., Hahn A., Hauser E., Hundt K., Holthausen H., Müller U., Neubauer B.A. SCN1A mutation analysis in myoclonic astatic epilepsy and severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures. Neuropediatrics 2005, 36:210-213.
12. Engel J. A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology. Epilepsia 2001, 42(June (6)):796-803.
13. 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. 2001, 68(4):866-873.
14. Escayg A., MacDonald B.T., Meisler M.H., Baulac S., Huberfeld G., An-Gourfinkel I., Brice A., LeGuern E., Moulard B., Chaigne D., Buresi C., Malafosse A. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nat. Genet. 2000, 24(4):343-345.
15. Gargus J.J., Tournay A. Novel mutation confirms seizure locus SCN1A is also familial hemiplegic migraine locus FHM3. Pediatr. Neurol. 2007, 37(6):407-410.
16. Gennaro E., Santorelli F.M., Bertini E., Buti D., Gaggero R., Gobbi G., Lini M., Granata T., Freri E., Parmeggiani A., Striano P., Veggiotti P., Cardinali S., Bricarelli F.D., Minetti C., Zara F. Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy. Biochem. Biophys. Res. Commun. 2006, 341(March (2)):489-493.
17. Guerrini R. Epilepsy in children. Lancet 2006, 367:499-524.
18. Guerrini R., Parmeggiani L., Kaminska A., Dulac O. Myoclonic astatic epilepsy. Epileptic Syndromes in Infancy, Childhood and Adolescence 2002, 105-112. John Libbey, Eastleigh. third ed. J. Roger, M. Bureau, C.H. Dravet, P. Genton, C.A. Tassinari, P. Wolf (Eds.).
19. Harkin L.A., McMahon J.M., Iona X., Dibbens L., Pelekanos J.T., Zuberi S.M., Sadleir L.G., Andermann E., Gill D., Farrell K., Connolly M., Stanley T., Harbord M., Andermann F., Wang J., Batish S.D., Jones J.D., Seltzer W.K., Gardner A., Infantile Epileptic Encephalopathy Referral Consortium, Sutherland G., Berkovic S.F., Mulley J.C., Scheffer I.E. The spectrum of SCN1A-related infantile epileptic encephalopathies. Brain 2007, 130:843-852.
20. Hattori J., Ouchida M., Ono J., Miyake S., Maniwa S., Mimaki N., Ohtsuka Y., Ohmori I. A screening test for the prediction of Dravet syndrome before one year of age. Epilepsia 2008, 49(4):626-633.
21. Kanai K., Yoshida S., Hirose S., Oguni H., Kuwabara S., Sawai S., Hiraga A., Fukuma G., Iwasa H., Kojima T., Kaneko S. Physicochemical property changes of amino acid residues that accompany missense mutations in SCN1A affect epilepsy phenotype severity. J. Med. Genet. 2009, 46(October (10)):671-679.
22. Kearney J.A., Wiste A.K., Stephani U., Trudeau M.M., Siegel A., RamachandranNair R., Elterman R.D., Muhle H., Reinsdorf J., Shields W.D., Meisler M.H., Escayg A. Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy. Pediatr. Neurol. 2006, 34(2):116-120.
23. Kumakura A., Ito M., Hata D., Oh N., Kurahashi H., Wang J.W., Hirose S. Novel de novo splice-site mutation of SCN1A in a patient with partial epilepsy with febrile seizures plus. Brain Dev. 2009, 31(2):179-182.
24. Lossin C., Rhodes T.H., Desai R.R., Vanoye C.G., Wang D., Carniciu S., Devinsky O., George A.L. Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A. J. Neurosci. 2003, 23(36):11289-11295.
25. Madia F., Striano P., Gennaro E., Malacarne M., Paravidino R., Biancheri R., Budetta M., Cilio M.R., Gaggero R., Pierluigi M., Minetti C., Zara F. Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy. Neurology 2006, 67:1230-1235.
26. Marini C., Mei D., Cross J.H., Guerrini R. Mosaic SCN1A mutation in familial severe myoclonic epilepsy of infancy. Epilepsia 2006, 47:1737-1740.
27. Marini C., Mei D., Temudo T., Ferrari A.R., Buti D., Dravet C., Dias A.I., Moreira A., Calado E., Seri S., Neville B., Narbona J., Reid E., Michelucci R., Sicca F., Cross H.J., Guerrini R. Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities. Epilepsia 2007, 48(September (9)):1678-1685.
28. Marini C., Scheffer I.E., Nabbout R., Mei D., Cox K., Dibbens L.M., McMahon J.M., Iona X., Carpintero R.S., Elia M., Cilio M.R., Specchio N., Giordano L., Striano P., Gennaro E., Cross J.H., Kivity S., Neufeld M.Y., Afawi Z., Andermann E., Keene D., Dulac O., Zara F., Berkovic S.F., Guerrini R., Mulley J.C. SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis. Epilepsia 2009, 50(July (7)):1670-1678.
29. Mulley J.C., Nelson P., Guerrero S., Dibbens L., Iona X., McMahon J.M., Harkin L., Schouten J., Yu S., Berkovic S.F., Scheffer I.E. A new molecular mechanism for severe myoclonic epilepsy of infancy: exonic deletions in SCN1A. Neurology 2006, 67(September (6)):1094-1095.
30. Mulley J.C., Scheffer I.E., Petrou S., Dibbens L.M., Berkovic S.F., Harkin L.A. SCN1A mutations and epilepsy. Hum. Mutat. 2005, 25(6):535-542.
31. Oguni H., Tanaka T., Hayashi K., Funatsuka M., Sakauchi M., Shirakawa S., Osawa M. Treatment and long-term prognosis of myoclonic-astatic epilepsy of early childhood. Neuropediatrics 2002, 33:122-132.
32. Orrico A., Galli L., Grosso S., Buoni S., Pianigiani R., Balestri P., Sorrentino V. Mutational analysis of the SCN1A SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies. Clin. Genet. 2009, 75(June (6)):579-581.
33. Suls A., Claeys K.G., Goossens D., Harding B., Van Luijk R., Scheers S., Deprez L., Audenaert D., Van Dyck T., Beeckmans S., Smouts I., Ceulemans B., Lagae L., Buyse G., Barisic N., Misson J.P., Wauters J., Del-Favero J., De Jonghe P., Claes L.R. Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients. Hum. Mutat. 2006, 27(September (9)):914-920.
34. Wallace R.H., Scheffer I.E., Barnett S., Richards M., Dibbens L., Desai R.R., Lerman-Sagie T., Lev D., Mazarib A., Brand N., Ben-Zeev B., Goikhman I., Singh R., Kremmidiotis G., Gardner A., Sutherland G.R., George A.L., Mulley J.C., Berkovic S.F. Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus. Am. J. Hum. Genet. 2001, 68(4):859-865.
35. Weiss L.A., Escayg A., Kearney J.A., Trudeau M., MacDonald B.T., Mori M., Reichert J., Buxbaum J.D., Meisler M.H. Sodium channels SCN1A, SCN2A and SCN3A in familial autism. Mol. Psychiatry 2003, 8:186-194.
36. Zucca C., Redaelli F., Epifanio R., Zanotta N., Romeo A., Lodi M., Veggiotti P., Airoldi G., Panzeri C., Romaniello R., De Polo G., Bonanni P., Cardinali S., Baschirotto C., Martorell L., Borgatti R., Bresolin N., Bassi M.T. Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified. Arch Neuro. 2008, 65(4):489-494.