Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlations.

doi:10.1111/j.1528-1167.2007.01020.x

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Article

Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlations.

Epilepsia - 1 Jun 2007

Striano Pasquale, Mancardi Maria Margherita, Biancheri Roberta, Madia Francesca, Gennaro Elena, Paravidino Roberta, Beccaria Francesca, Capovilla Giuseppe, Dalla Bernardina Bernardo, 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

Abstract excerpt

INTRODUCTION: To determine the occurrence of neuroradiological abnormalities and to perform genotype-phenotype correlations in severe myoclonic epilepsy of infancy (SMEI, Dravet syndrome). PATIENTS AND METHODS: Alpha-subunit type A of voltage-gated sodium channel (SCN1A) mutational screening was performed by denaturing high-performance liquid chromatography (DHPLC) and multiplex ligation probe amplification...

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PMID: 17381446
DOI: 10.1111/j.1528-1167.2007.01020.x

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