RICERCA ITALIANA     

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Classificazione scientifico-disciplinare

• Area scientifico disciplinare: Scienze mediche
  • GENETICA MEDICA
  • NEUROLOGIA

Classificazione brevettuale

• CHEMISTRY; METALLURGY
  • BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • MEASURING OR TESTING PROCESSES INVOLVING ENZYMES OR MICRO-ORGANISMS (immunoassay G01N33/53); COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
• HUMAN NECESSITIES
  • MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • PREPARATIONS FOR MEDICAL, DENTAL, OR TOILET PURPOSES (bringing into special physical form A61J [N: mechanical aspects]; chemical aspects of, or use of materials for deodorisation of air, for disinfection or sterilisation, or for bandages, dressings, absorbent pads or surgical articles A61L; compounds per se C01, C07, C08, C12N; soap compositions C11D; micro-organisms per se C12N) [C0203]

Classificazione geografica

• Regione: Lazio

Bibliografia

1) Claes L, Del-Favero J, Ceulemans B, Lagae L, Van Broeckhoven C, De Jonghe. De Novo Mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am. J. Hum. Gen., 68:1327-1332, 2001

2) Commission on classification and terminology of the International League against Epilepsy, Epilepsia 30:389-399, 1989

3) Escayg A, MacDonald BT, Baulac S, Huberfeld G, An-Gourfinkel I, Brice A, LeGuern E, Moulard B, Chaigne D, Buresi C, Malafosse A, Meisler MH. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+. Nature Genetics 24, 343-345, 2000

4) Sugawara T, Tsurubuchi Y, Agarwala KL, Ito M, Fukuma G, Mazaki-Miyazaki E, Nagafuji H, Noda M, Imoto K, Wada K, Mitsudome A, Kaneko S, Montal M, Nagata K, Hirose S, Yamakawa K. 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 98:6384-6389, 2001

5) Wallace RH, Wang DW, Singh R, Scheffer IE, George AL Jr, Phillips HA, Saar K, Reis A, Johnson EW, Sutherland GR, Berkovic SF, Mulley JC. Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel a1 subunit gene SCN1B. Nature Genetics19:366-370, 1998.

6) Guerrini R, De Lorey T, Bonanni P, Moncla A, Dravet C, Suisse G, Livet MO, Bureau M, Malzac P, Genton P, Thomas P, Sartucci F, Simi P, Serratosa JM. Cortical Myoclonus in Angelman Syndrome. Annals of Neurology 39:699-708, 1996

7) Minassian B, DeLorey T, Olsen RW, Philippart M, Zhang Q, Bronstein Y, Guerrini R, Van Ness P, Livet MO, Delgado-Escueta AV. The epilepsy of Angelman syndrome due to deletion, disomy, imprinting center and UB3A mutations. Annals of Neurology 43: 485-493, 1998

8) Underhill PA, Jin L, Lin AA, Mehdi SQ, Jenkins T, Vollrath D, Davis RW, Cavalli-Sforza LL, Oefner PJ. Detection of numerous Y chromosome biallelic polymorphisms by denaturing high-performance liquid chromatography. (1997) Genome Res. 7(10):996-1005.

9) Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES. Parametric and nonparametric linkage analysis: a unified multipoint approach (1996) Am J Hum Genet 58(6): 1347-1363.

10) Spielman RS, McGinnis RE, Ewens WJ. Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM) (1993) Am J Hum Genet 52(3): 506-516.

11) Terwilliger, JD. A Powerful Likelihood Method for the Analysis of Linkage Disequilibrium between Trait Loci and One or More Polymorphic Marker Loci (1995) Am J Hum Genet 56: 777-787.


12) Juliano R.L.& Ling V. (1998). A surface glycoprotein modulating drug permeability in Chinese hamster ovary cell mutants. Biochim. Biophys. Acta 455: 152-162.

13) Librizzi L, Folco G and de Curtis M (2000) NO-synthase inhibitors block acetylcholine-mediated dilation of cerebral arteries in the in vitro isolated guinea pig brain. Neuroscience 101, 283-287.

14) Liu, H., Delgado, M., Forman, L.J., Eggers, C.M. and J.L. Montoya (1993) Simultaneous determination of carbamazepine, phenytoin, phenobarbital, primidone and their principal metabolites by high-performance liquid chromatography with photodiode-array detection. J. Liquid Chromatogr. 616: 105-115.

15) Loscher (1997) Animal models of intractable epilepsy. Prog.Neurobiol. 53: 239-258.

16) Carvalho R.A. (1999) Caracterìzação de modelos de epilepsia do lobo temporal em Proechimys guyannensis. PhD Thesis, Universidade Federal de São Paulo, Brazil

17) Fabene P.F., Bertini G., Correia L., Cavalheiro E.A., Bentivoglio M.: The thalamus of the Amazon spiny rat Proechimys guyannensis, an animal model of resistance to epilepsy, and pilocarpine-induced long-term changes of protein expression. Thalamus and Related Systems 1, 117-133, 2001

18) De Fusco M., et al (2000) The nicotinic receptor beta-2 subunit is mutant in nocturnal frontal lobe epilepsy. Nature Genet. 26: 275-276.

19) Palmini A., Najm I., Avanzini G., Babb T., Guerrini R., Foldvary N., Jackson G., Lüders H., Prayson R., Spreafico R., Vinters H. Issues in terminology and classification of focal cortical dysplasias. Submitted.

20) Spreafico R., Tassi L., Colombo N., Bramerio M., Galli C., Garbelli R., Ferrario A., Lo Russo G., Munari C.: Inhibitory circuits in human dysplastic tissue. Epilepsia 41 (Suppl. 6): S168-S173, 2000.

21) Spreafico R., Battaglia G., Arcelli P., Andermann F., Dubeau F., Palmini A., Olivier A., Villemure J.-G., Tampieri D., Avanzini G., Avoli M.: Cortical dysplasia. An immunocytochemical study of three patients. Neurology 50: 27-36, 1998.

22) Garbelli R., Munari C., De Biasi S., Vitellaro-Zuccarello L., Galli C., Bramerio M., Mai R., Battaglia G., Spreafico R.: Taylor’s cortical dysplasia: a confocal and ultrastructural immunohistochemical study. Brain Pathol. 9: 445-461, 1999.

Parole Chiave

Epilessia; Farmacoresistenza; Farmacogenomica; Farmacogenetica; Farmaci antiepilettici; Modelli animali