Search Results

Hemiconvulsion-hemiplegia syndrome in a patient with severe myoclonic epilepsy in infancy

Authors: Sakakibara, Takafumi; Nakagawa, Eiji; Saito, Yoshiaki; Sakuma, Hiroshi; Komaki, Hirofumi; Sugai, Kenji; Sasaki, Masayuki; Kurahashi, Hirokazu; Hirose, Shinichi

Source: Epilepsia, Volume 50, Number 9, September 2009 , pp. 2158-2162(5)

Publisher: Blackwell Publishing

Clinical spectrum of SCN1A mutations

Authors: Gambardella, Antonio; Marini, Carla

Source: Epilepsia, Volume 50, Supplement 5, May 2009 , pp. 20-23(4)

Publisher: Blackwell Publishing

Microchromosomal deletions involving SCN1A and adjacent genes in severe myoclonic epilepsy in infancy

Authors: Wang, Ji-wen; Kurahashi, Hirokazu; Ishii, Atsushi; Kojima, Toshio; Ohfu, Masaharu; Inoue, Takahito; Ogawa, Atsushi; Yasumoto, Sawa; Oguni, Hirokazu; Kure, Shigeo; Fujii, Tatsuya; Ito, Masatoshi; Okuno, Takehiko; Shirasaka, Yukiyoshi; Natsume, Jun; Hasegawa, Aki; Konagaya, Akihiko; Kaneko, Sunao; Hirose, Shinichi

Source: Epilepsia, Volume 49, Number 9, September 2008 , pp. 1528-1534(7)

Publisher: Blackwell Publishing

The period and amplitude changes of Polaris (α UMi) from 2003 to 2007 measured with SMEI

Authors: Spreckley, S. A.; Stevens, I. R.

Source: Monthly Notices of the Royal Astronomical Society, Volume 388, Number 3, August 2008 , pp. 1239-1244(6)

Publisher: Blackwell Publishing

Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A

Authors: Møller, Rikke S.; Schneider, Lizette M.; Hansen, Christian P.; Bugge, Merete; Ullmann, Reinhard; Tommerup, Niels; Tümer, Zeynep

Source: Epilepsia, Volume 49, Number 6, June 2008 , pp. 1091-1094(4)

Publisher: Blackwell Publishing

A Screening test for the prediction of Dravet syndrome before one year of age

Authors: Hattori, Junri; Ouchida, Mamoru; Ono, Junko; Miyake, Susumu; Maniwa, Satoshi; Mimaki, Nobuyoshi; Ohtsuka, Yoko; Ohmori, Iori

Source: Epilepsia, Volume 49, Number 4, April 2008 , pp. 626-633(8)

Publisher: Blackwell Publishing

Severe myoclonic epilepsy in infancy: A systematic review and a meta-analysis of individual patient data

Authors: Kassaï, Behrouz; Chiron, Catherine; Augier, Ségolène; Cucherat, Michel; Rey, Elisabeth; Gueyffier, François; Guerrini, Renzo; Vincent, Julien; Dulac, Olivier; Pons, Gérard

Source: Epilepsia, Volume 49, Number 2, February 2008 , pp. 343-348(6)

Publisher: Blackwell Publishing

Rasmussen encephalitis associated with SCN1A mutation

Authors: Ohmori, Iori; Ouchida, Mamoru; Kobayashi, Katsuhiro; Jitsumori, Yoshimi; Inoue, Takushi; Shimizu, Kenji; Matsui, Hideki; Ohtsuka, Yoko; Maegaki, Yoshihiro

Source: Epilepsia, Volume 49, Number 3, March 2008 , pp. 521-526(6)

Publisher: Blackwell Publishing

Channeling into the Epilepsies

Source: Epilepsy Currents, Volume 8, Number 2, March/April 2008 , pp. 37-38(2)

Publisher: Blackwell Publishing

Asteroseismology of red giants: photometric observations of Arcturus by SMEI

Authors: Tarrant, N. J.; Chaplin, W. J.; Elsworth, Y.; Spreckley, S. A.; Stevens, I. R.

Source: Monthly Notices of the Royal Astronomical Society: Letters, Volume 382, Number 1, November 2007 , pp. L48-L52(1)

Publisher: Blackwell Publishing

Idiopathic Epilepsies with Seizures Precipitated by Fever and SCN1A Abnormalities

Authors: Marini, Carla; Mei, Davide; Temudo, Teresa; Ferrari, Anna Rita; Buti, Daniela; Dravet, Charlotte; Dias, Ana I.; Moreira, Ana; Calado, Eulalia; Seri, Stefano; Neville, Brian; Narbona, Juan; Reid, Evan; Michelucci, Roberto; Sicca, Federico; Cross, Helen J.; Guerrini, Renzo

Source: Epilepsia, Volume 48, Number 9, September 2007 , pp. 1678-1685(8)

Publisher: Blackwell Publishing

Brain MRI Findings in Severe Myoclonic Epilepsy in Infancy and Genotype-Phenotype Correlations

Authors: Striano, Pasquale; Mancardi, Maria Margherita; Biancheri, Roberta; Madia, Francesca; Gennaro, Elena; Paravidino, Roberta; Beccaria, Francesca; Capovilla, Giuseppe; Bernardina, Bernardo Dalla; Darra, Francesca; Elia, Maurizio; Giordano, Lucio; Gobbi, Giuseppe; Granata, Tiziana; Ragona, Francesca; Guerrini, Renzo; Marini, Carla; Mei, Davide; Longaretti, Francesca; Romeo, Antonino; Siri, Laura; Specchio, Nicola; Vigevano, Federico; Striano, Salvatore; Tortora, Fabio; Rossi, Andrea; Minetti, Carlo; Dravet, Charlotte; Gaggero, Roberto; Zara, Federico

Source: Epilepsia, Volume 48, Number 6, June 2007 , pp. 1092-1096(5)

Publisher: Blackwell Publishing

Familial Occurrence of Febrile Seizures and Epilepsy in Severe Myoclonic Epilepsy of Infancy (SMEI) Patients with SCN1A Mutations

Source: Epilepsia, Volume 48, Number 2, February 2007 , pp. 409-409(1)

Publisher: Blackwell Publishing

Severe Myoclonic Epilepsy of Infants (Dravet Syndrome): Natural History and Neuropsychological Findings

Authors: Wolff, Markus; Cassé-Perrot, Catherine; Dravet, Charlotte

Source: Epilepsia, Volume 47, Supplement 2, November 2006 , pp. 45-48(4)

Publisher: Blackwell Publishing

The Natural History of Myoclonic Astatic Epilepsy (Doose Syndrome) and Lennox-Gastaut Syndrome

Author: Stephani, Ulrich

Source: Epilepsia, Volume 47, Supplement 2, November 2006 , pp. 53-55(3)

Publisher: Blackwell Publishing

Familial Occurrence of Febrile Seizures and Epilepsy in Severe Myoclonic Epilepsy of Infancy (SMEI) Patients with SCN1A Mutations

Authors: Margherita Mancardi, Maria; Striano, Pasquale; Gennaro, Elena; Madia, Francesca; Paravidino, Roberta; Scapolan, Sara; dalla Bernardina, Bernardo; Bertini, Enrico; Bianchi, Amedeo; Capovilla, Giuseppe; Darra, Francesca; Elia, Maurizio; Freri, Elena; Gobbi, Giuseppe; Granata, Tiziana; Guerrini, Renzo; Pantaleoni, Chiara; Parmeggiani, Antonia; Romeo, Antonino; Santucci, Margherita; Vecchi, Marilena; Veggiotti, Pierangelo; Vigevano, Federico; Pistorio, Angela; Gaggero, Roberto; Zara, Federico

Source: Epilepsia, Volume 47, Number 10, October 2006 , pp. 1629-1635(7)

Publisher: Blackwell Publishing

Nonfunctional SCN1A Is Common in Severe Myoclonic Epilepsy of Infancy

Authors: Ohmori, Iori; Kahlig, Kristopher M.; Rhodes, Thomas H.; Wang, Dao W.; George, Alfred L.

Source: Epilepsia, Volume 47, Number 10, October 2006 , pp. 1636-1642(7)

Publisher: Blackwell Publishing

SCN1A Mutation Mosaicism in a Family with Severe Myoclonic Epilepsy in Infancy

Authors: Morimoto, Masafumi; Mazaki, Emi; Nishimura, Akira; Chiyonobu, Tomohiro; Sawai, Yasuko; Murakami, Aki; Nakamura, Keiko; Inoue, Ikuyo; Ogiwara, Ikuo; Sugimoto, Tohru; Yamakawa, Kazuhiro

Source: Epilepsia, Volume 47, Number 10, October 2006 , pp. 1732-1736(5)

Publisher: Blackwell Publishing

Mosaic SCN1A Mutation in Familial Severe Myoclonic Epilepsy of Infancy

Authors: Marini, Carla; Mei, Davide; Helen Cross, J.; Guerrini, Renzo

Source: Epilepsia, Volume 47, Number 10, October 2006 , pp. 1737-1740(4)

Publisher: Blackwell Publishing

Severe epilepsy resulting from genetic interaction between Scn2a and Kcnq2

Authors: Kearney, Jennifer A.; Yang, Yan; Beyer, Barbara; Bergren, Sarah K.; Claes, Lieve; DeJonghe, Peter; Frankel, Wayne N.

Source: Human Molecular Genetics, Volume 15, Number 6, 15 March 2006 , pp. 1043-1048(6)

Publisher: Oxford University Press