Whole-Exome Sequencing Identifies a Variant of the Mitochondrial MT-ND1 Gene Associated with Epileptic Encephalopathy: West Syndrome Evolving to Lennox-Gastaut Syndrome.

By Martín Casanueva, Miguel Ángel | Arenas Barbero, Joaquín | Delmiro Magdalena, Aitor | García-Consuegra Galiana, Inés | Martinez Azorin, Francisco | Martín Hernández, Elena | Moreno Izquierdo, Ana | Quijada Fraile, Pilar | Rivera Gorrín, Henry | Simón de las Heras, Rogelio | García Silva, María Teresa. Human Mutation, 2013 , Formato Vancouver: Delmiro A, Rivera H, García-Silva MT, García-Consuegra I, Martín-Hernández E, Quijada-Fraile P et al. Whole-exome sequencing identifies a variant of the mitochondrial MT-ND1 gene associated with epileptic encephalopathy: west syndrome evolving to Lennox-Gastaut syndrome. Hum Mutat. 2013 Dec;34(12):1623-7.

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A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome.

By Arenas Barbero, Joaquín | Delmiro Magdalena, Aitor | García Silva, María Teresa | Martín Casanueva, Miguel Ángel | Martinez Azorin, Francisco | Martín Hernández, Elena | Muley Alonso, Rafael | Quijada Fraile, Pilar | Rivera Gorrín, Henry. BMC nephrology, 2013 . 14:195. , Formato Vancouver: Rivera H, Martín-Hernández E, Delmiro A, García-Silva MT, Quijada-Fraile P, Muley R et al. A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome. BMC Nephrol. 2013 Sep 13;14:195.

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Whole-Exome Sequencing Identifies a Variant of the Mitochondrial MT-ND1 Gene Associated with Epileptic Encephalopathy: West Syndrome Evolving to Lennox-Gastaut Syndrome.

A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome.