No evidence of GABRG2 mutations in severe myoclonic epilepsy of infancy

Epilepsy Research

Volumn 53, Issue 3, 2003, Pages 196-200

  Madia, Francesca ^a   Gennaro, Elena ^a   Cecconi, Massimiliano ^a   Buti, Daniela ^b   Capovilla, Giuseppe ^c   Dalla Bernardina, Bernardo ^d   Elia, Maurizio ^e   Ferrari, Annarita ^f   Fontana, Elena ^c   Gaggero, Roberto ^g   Giannotta, Melania ^h   Giordano, Lucio ⁱ   Granata, Tiziana ^j   La Selva, Lorita ^k   Lispi, Maria Luisa ^l   Santucci, Margherita ^m   Vanadia, Francesca ⁿ   Veggiotti, Pierangelo ^o   Vigliano, Piernanda ^p   Viri, Maurizio ^q   Dagna Bricarelli, Franca ^a   Bianchi, Amedeo ^r   Zara, Federico ^g   more..

^a GALLIERA HOSPITAL   (Italy)

^b UNIVERSITY OF FLORENCE   (Italy)

^c CARLO POMA HOSPITAL   (Italy)

^d UNIVERSITY OF VERONA   (Italy)

^e OASI RESEARCH INSTITUTE IRCCS   (Italy)

^f DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^g G GASLINI INSTITUTE   (Italy)

^h MAGGIORE HOSPITAL   (Italy)

ⁱ SPEDALI CIVILI   (Italy)

^j DEPARTMENT OF NEUROSURGERY   (Italy)

^k Ospedale Pediatrico Giovanni XXIII   (Italy)

^l BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^m UNIVERSITY OF BOLOGNA   (Italy)

ⁿ Division of Child Neuropsychiatry   (Italy)

^o C MONDINO NATIONAL NEUROLOGICAL INSTITUTE   (Italy)

^p UNIVERSITY OF TURIN   (Italy)

^q FATEBENEFRATELLI HOSPITAL   (Italy)

^r IRCCS POLICLINICO SAN DONATO   (Italy)

more..

Author keywords

Genetics; Ion channels; Mutations; Severe myoclonic epilepsy of infancy

Indexed keywords

4 AMINOBUTYRIC ACID A RECEPTOR; AMINO ACID; DNA FRAGMENT; MUTANT PROTEIN; NUCLEOTIDE; PROTEIN SUBUNIT; RECEPTOR SUBUNIT; SODIUM CHANNEL;

ADOLESCENT; ALPHA CHAIN; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CONTROLLED STUDY; DENATURATION; DISEASE SEVERITY; DNA SEQUENCE; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC SCREENING; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; INFANCY; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; MYOCLONUS SEIZURE; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN DEFECT; PROTEIN FUNCTION; PROTEIN VARIANT;

EID: 0037360506     PISSN: 09201211     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0920-1211(03)00022-6     Document Type: Article

References (14)

1. Baulac S., Huberfeld G., Gourfinkel-An I., Mitropoulou G., Beranger A., Prud'homme J.F., Baulac M., Brice A., Bruzzone R., LeGuern E. First genetic evidence of GABAA receptor dysfunction in epilepsy: a mutation in the γ2-subunit gene. Nat. Genet. 28:2001;46-480.
2. Benlounis A., Nabbout R., Feingold J., Parmeggiani A., Guerrini R., Kaminska A., Dulac O. Genetic predisposition to severe myoclonic epilepsy in infancy. Epilepsia. 42:2001;204-209.
3. 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.
4. Commission on Classification and Terminology of the International League Against Epilepsy, 1989. Proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia 30, 389-399.
5. Dravet, C., Roger, J., Bureau, M., Dalla Bernardina, B., 1982. Myoclonic epilepsies in childhood. In: Akimoto, H., Kazamatsuri, H., Seino, M., Ward, A. (Eds.), Advances in Epileptology. Raven Press, New York, pp. 135-140.
6. Fujiwara T., Nakamura H., Watanabe M., Yagi K., Seino M., Nakamura H. Clinicoelectrographic concordance between monozygotic twins with severe myoclonic epilepsy in infancy. Epilepsia. 31:1990;281-286.
7. Harkin L.A., Bowser D.N., Dibbens L.M., Singh R., Phillips F., Wallace R.H., Richards M.C., Williams D.A., Mulley J.C., Berkovic S.F., Scheffer I.E., Petrou S. Truncation of GABAA-receptor γ2 subunit in a family with generalized epilepsy with febrile seizures plus. Am. J. Hum. Genet. 70:2002;530-536.
8. Kananura C., Haug K., Sander T., Runge U., Gu W., Hallmann K., Rebstock J., Heils A., Steinlein O.K. A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions. Arch. Neurol. 59:2002;1137-1141.
9. Mody I., Koninck Y.D., Otis T., Soltesz I. Bridging the cleft at GABA synapses in the brain. Trends Neurosci. 17:1994;517-525.
10. Nabbout, R., Gennaro, E., Dalla Bernardina, B., Dulac, O., Madia, F., Bertini, E., Capovilla, G., Chiron, C., Cristofori, G., Elia, M., Fontana, E., Gaggero, R., Granata, T., Guerrini, R., Loi, M., La Selva, L., Lispi M.L., Matricardi, A., Romeo A., Tzolas, V., Valseriati, D., Veggiotti, P., Vigevano, F., Vallée, L., Dagna Bricarelli, F., Bianchi, A., Zara, F., submitted. Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.
11. A receptors. Neurochem. Int. 34:1999;379-385.
12. Veggiotti P., Cardinali S., Montalenti E., Gatti A., Lanzi G. Generalized epilepsy with febrile seizures plus and severe myoclonic epilepsy in infancy: a case report of two Italian families. Epileptic Disord. 3:2001;29-32.
13. Wallace R.H., Marini C., Petrou S., Harkin L.A., Bowser D.N., Panchal R.G., Williams D.A., Sutherland G.R., Mulley J.C., Scheffer I.E., Berkovic S.F. Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. Nat. Genet. 28:2001;49-52.
14. Xiao W., Oefner P.J. Denaturing high-performance liquid chromatography: a review. Hum. Mutat. 17:2001;439-474.