A novel c132-134del mutation in Unverricht-Lundborg disease and the review of literature of heterozygous compound patients.

Assenza, Giovanni; Benvenga, Antonella; Gennaro, Elena; Tombini, Mario; Campana, Chiara; Assenza, Federica; Di Pino, Giovanni; Di Lazzaro, Vincenzo

Assenza, Giovanni; Benvenga, Antonella; Gennaro, Elena; Tombini, Mario; Campana, Chiara; Assenza, Federica; Di Pino, Giovanni; Di Lazzaro, Vincenzo.

Afiliación

Assenza G; Clinical Neurology, Campus Biomedico University of Rome, Rome, Italy.
Benvenga A; Clinical Neurology, Campus Biomedico University of Rome, Rome, Italy.
Gennaro E; Genetic Laboratory, E.O. Ospedali Galliera, Genova, Italy.
Tombini M; Clinical Neurology, Campus Biomedico University of Rome, Rome, Italy.
Campana C; Clinical Neurology, Campus Biomedico University of Rome, Rome, Italy.
Assenza F; Clinical Neurology, Campus Biomedico University of Rome, Rome, Italy.
Di Pino G; Clinical Neurology, Campus Biomedico University of Rome, Rome, Italy.
Di Lazzaro V; Clinical Neurology, Campus Biomedico University of Rome, Rome, Italy.

Epilepsia ; 58(2): e31-e35, 2017 02.

Article en En | MEDLINE | ID: mdl-27888502

Asunto(s)

Cistatina B/genética; Eliminación de Secuencia/genética; Síndrome de Unverricht-Lundborg/genética; Cromosomas Humanos Par 21/genética; Análisis Mutacional de ADN; Femenino; Humanos; Masculino; Persona de Mediana Edad; Fenotipo; Hermanos

Palabras clave

Gender; Heterozygous compound progressive myoclonic epilepsy; Progressive myoclonic epilepsy; Unverricht-Lundborg disease

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Eliminación de Secuencia / Síndrome de Unverricht-Lundborg / Cistatina B Límite: Female / Humans / Male / Middle aged Idioma: En Revista: Epilepsia Año: 2017 Tipo del documento: Article País de afiliación: Italia

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