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References (35)
-
E. Kawasaki, H. Erlich (1990)
Polymerase chain reaction and analysis of cancer cell markers.Journal of the National Cancer Institute, 82 10
-
R. Wallace, I. Scheffer, G. Parasivam, Scott Barnett, G. Wallace, G. Sutherland, S. Berkovic, J. Mulley (2002)
Generalized epilepsy with febrile seizures plus: Mutation of the sodium channel subunit SCN1BNeurology, 58
-
Takashi Sugawara, Emi Mazaki-Miyazaki, Katsuyuki Fukushima, J. Shimomura, T. Fujiwara, S. Hamano, Y. Inoue, K. Yamakawa (2002)
Frequent mutations of SCN1A in severe myoclonic epilepsy in infancyNeurology, 58
-
J. Engel (2001)
A Proposed Diagnostic Scheme for People with Epileptic Seizures and with Epilepsy: Report of the ILAE Task Force on Classification and TerminologyEpilepsia, 42
-
Junko Nakayama, K. Hamano, Nobuaki Iwasaki, S. Nakahara, Y. Horigome, H. Saitoh, Takeshi Aoki, Takako Maki, Masahiro Kikuchi, T. Migita, T. Ohto, Y. Yokouchi, R. Tanaka, Makoto Hasegawa, A. Matsui, Hideo Hamaguchi, T. Arinami (2000)
Significant evidence for linkage of febrile seizures to chromosome 5q14-q15.Human molecular genetics, 9 1
-
D. Audenaert, L. Claes, K. Claeys, L. Deprez, Tine Van, Dyck, D. Goossens, J. Del-Favero, W. Paesschen, C. Van, Broeckhoven, P. Jonghe (2005)
A novel susceptibility locus at 2p24 for generalised epilepsy with febrile seizures plusJournal of Medical Genetics, 42
-
P. Bonanni, Michela Malcarne, F. Moro, P. Veggiotti, D. Buti, A. Ferrari, E. Parrini, D. Mei, A. Volzone, F. Zara, S. Heron, L. Bordo, C. Marini, R. Guerrini (2004)
Generalized Epilepsy with Febrile Seizures Plus (GEFS+): Clinical Spectrum in Seven Italian Families Unrelated to SCN1A, SCN1B, and GABRG2 Gene MutationsEpilepsia, 45
-
L. Dibbens, H. Feng, M. Richards, L. Harkin, B. Hodgson, Darren Scott, Misty Jenkins, S. Petrou, G. Sutherland, I. Scheffer, S. Berkovic, R. Macdonald, J. Mulley (2004)
GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies.Human molecular genetics, 13 13
-
R. Nabbout, J. Prud'homme, Alexandra Herman, J. Feingold, A. Brice, O. Dulac, E. Leguern (2002)
A locus for simple pure febrile seizures maps to chromosome 6q22-q24.Brain : a journal of neurology, 125 Pt 12
-
A. Escayg, B. MacDonald, M. Meisler, S. Baulac, G. Huberfeld, I. An-Gourfinkel, A. Brice, E. Leguern, B. Moulard, D. Chaigne, C. Buresi, A. Malafosse (2000)
Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2Nature Genetics, 24
-
H. Mrabet, N. Belhedi, S. Bouchlaka, A. Gaaied, A. Mrabet (2007)
GEFS+ is not related to the most common mutations of SCN1B, SCN1A and GABRG2 in two Tunisian familiesNeurological Sciences, 28
-
M. Ito, Kazuhiro Yamakawa, Takashi Sugawara, Shinichi Hirose, G. Fukuma, S. Kaneko (2006)
Phenotypes and genotypes in epilepsy with febrile seizures plusEpilepsy Research, 70
-
A. Escayg, A. Heils, B. MacDonald, K. Haug, T. Sander, M. Meisler (2001)
A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy.American journal of human genetics, 68 4
-
A. Peiffer, J. Thompson, Carole Charlier, B. Otterud, T. Varvil, C. Pappas, Craig Barnitz, Kristen Gruenthal, Renée Kuhn, Mark Leppert (1999)
A locus for febrile seizures (FEB3) maps to chromosome 2q23‐24Annals of Neurology, 46
-
P. Hedera, Shaochun Ma, Marcia Blair, Kelly Taylor, A. Hamati, Y. Bradford, B. Abou-Khalil, J. Haines (2006)
Identification of a Novel Locus for Febrile Seizures and Epilepsy on Chromosome 21q22Epilepsia, 47
-
(2004)
Linkage and association of febrile seizures to the IMPA2 gene on human chromosome -
G. Lathrop, J. Lalouel, C. Julier, J. Ott (1985)
Multilocus linkage analysis in humans: detection of linkage and estimation of recombination.American journal of human genetics, 37 3
-
T. Tatusova, Thomas Madden (1999)
BLAST 2 Sequences, a new tool for comparing protein and nucleotide sequences.FEMS microbiology letters, 174 2
-
G. Abecasis, S. Cherny, W. Cookson, L. Cardon (2002)
Merlin—rapid analysis of dense genetic maps using sparse gene flow treesNature Genetics, 30
-
E. Johnson, J. Dubovsky, S. Rich, Cormac O'Donovan, H. Orr, V. Anderson, A. Gil-Nagel, P. Ahmann, Charles Dokken, Derek Schneider, J. Weber (1998)
Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest.Human molecular genetics, 7 1
-
R. Wallace, Daowen Wang, Rita Singh, I. Scheffer, A. George, H. Phillips, K. Saar, A. Reis, Eric Johnson, G. Sutherland, S. Berkovic, J. Mulley (1998)
Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel ß1 subunit gene SCN1BNature Genetics, 19
-
J. Nakayama, N. Yamamoto, K. Hamano, N. Iwasaki, M. Ohta, S. Nakahara, A. Matsui, E. Noguchi, T. Arinami (2004)
Linkage and association of febrile seizures to the IMPA2 gene on human chromosome 18Neurology, 63
-
R. Wallace, S. Berkovic, R. Howell, G. Sutherland, J. Mulley (1996)
Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21.Journal of Medical Genetics, 33
-
K. Yoshimura, F. Hamada, I. Nomura, T. Kurashige (1989)
Proposal for Revised Classification of Epilepsies and Epileptic SyndromesEpilepsia, 30
-
L. Harkin, D. Bowser, L. Dibbens, Rita Singh, Fiona Phillips, R. Wallace, M. Richards, D. Williams, J. Mulley, S. Berkovic, I. Scheffer, S. Petrou (2002)
Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus.American journal of human genetics, 70 2
-
Xiumin Wang, Meichun Xu, Lizhong Du (2007)
Association Analysis of γ2 Subunit of γ-aminobutyric Acid (GABA) Type A Receptor and Voltage-gated Sodium Channel Type II α-polypeptide Gene Mutation in Southern Chinese Children With Febrile SeizuresJournal of Child Neurology, 22
-
S. Hirose, R. Mohney, M. Okada, S. Kaneko, A. Mitsudome (2003)
The genetics of febrile seizures and related epilepsy syndromesBrain and Development, 25
-
C. Kananura, K. Haug, T. Sander, U. Runge, W. Gu, K. Hallmann, J. Rebstock, A. Heils, O. Steinlein (2002)
A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions.Archives of neurology, 59 7
-
Takashi Sugawara, Y. Tsurubuchi, K. Agarwala, M. Ito, G. Fukuma, Emi Mazaki-Miyazaki, H. Nagafuji, M. Noda, K. Imoto, K. Wada, A. Mitsudome, S. Kaneko, M. Montal, K. Nagata, S. Hirose, K. Yamakawa (2001)
A missense mutation of the Na+ channel αII subunit gene Nav1.2 in a patient with febrile and afebrile seizures causes channel dysfunctionProceedings of the National Academy of Sciences of the United States of America, 98
-
N. Laird, S. Horvath, Xin Xu (2000)
Implementing a unified approach to family‐based tests of associationGenetic Epidemiology, 19
-
S. Baulac, G. Huberfeld, I. Gourfinkel‐An, G. Mitropoulou, A. Beranger, J. Prud'homme, M. Baulac, A. Brice, R. Bruzzone, E. Leguern (2001)
First genetic evidence of GABAA receptor dysfunction in epilepsy: a mutation in the γ2-subunit geneNature Genetics, 28
-
R. Nabbout, S. Baulac, I. Desguerre, N. Bahi-Buisson, C. Chiron, M. Ruberg, O. Dulac, E. Leguern (2007)
New locus for febrile seizures with absence epilepsy on 3p and a possible modifier gene on 18pNeurology, 68
-
C. Stafstrom (2002)
The Incidence and Prevalence of Febrile Seizures -
D. Audenaert, E. Schwartz, K. Claeys, L. Claes, L. Deprez, A. Suls, T. Dyck, L. Lagae, C. Broeckhoven, R. MacDonald, P. Jonghe (2006)
A novel GABRG2 mutation associated with febrile seizuresNeurology, 67
-
I. Scheffer, S. Berkovic (1997)
Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes.Brain : a journal of neurology, 120 ( Pt 3)
- Publisher
- Wiley
- Copyright
- © 2009 The Author(s). Journal compilation © 2009 EFNS
- ISSN
- 1351-5101
- eISSN
- 1468-1331
- DOI
- 10.1111/j.1468-1331.2009.02570.x
- pmid
- 19236456
- Publisher site
- See Article on Publisher Site
Abstract
Background and purpose: Febrile Seizure can be associated with heterogeneous epilepsy phenotypes regrouped in a syndrome called generalized epilepsy with febrile seizures plus (GEFS+). The aim of this report is to search for the gene responsible for GEFS+ in two affected Tunisian families. Methods: Microsatellite marker analysis was performed on the known FS and GEFS+ loci. According to the results obtained by statistical analyses, GABRG2 on GEFS+3 locus and SCN1A on GEFS+2 locus were considered as two of the potential candidate genes and were tested for mutations by direct sequencing. Results and conclusions: The mutation analysis and statistical test of the GABRG2 gene revealed a disease association with rs211014 in intron 8 (χ2 = 5.25, P = 0.021). A sequencing analysis of the SCN1A gene was performed for the two tested families and showed a known mutation (c.1811G>A) and a putative disease‐associated haplotype in only one family. Our results support that SCN1A is the responsible gene for GEFS+ in one of the two studied Tunisian families and suggest a positive association of an intronic SNP in the GABRG2 gene in both families.
Journal
European Journal of Neurology – Wiley
Published: Jun 1, 2009