Cryptogenic epileptic syndromes related to SCN1A - Twelve novel mutations identified
Por:
Zucca C, Redaelli F, Epifanio R, Zanotta N, Romeo A, Lodi M, Veggiotti P, Airoldi G, Panzeri C, Romaniello R, De Polo G, Bonanni P, Cardinali S, Baschirotto C, Martorell-Sampol L, Borgatti R, Bresolin N and Bassi MT
Publicada:
1 abr 2008
Resumen:
Sodium channel alpha 1 subunit gene, SCN1A, is the gene encoding the neuronal voltage-gated sodium channel alpha 1 subunit (Na(v)1.1) and is mutated in different forms of epilepsy. Mutations in this gene were observed in more than 70% of patients with severe myoclonic epilepsy of infancy (SMEI) and were also found in different types of infantile epileptic encephalopathy.
Filiaciones:
Zucca C:
Clinical Neurophysiology Unit, E. Medea Scientific Institute, Lecco, Italy
Redaelli F:
Clinical Neurophysiology Unit, E. Medea Scientific Institute, Lecco, Italy
Epifanio R:
Clinical Neurophysiology Unit, E. Medea Scientific Institute, Lecco, Italy
Zanotta N:
Clinical Neurophysiology Unit, E. Medea Scientific Institute, Lecco, Italy
Romeo A:
Clinical Neurophysiology Unit, E. Medea Scientific Institute, Lecco, Italy
Lodi M:
Clinical Neurophysiology Unit, E. Medea Scientific Institute, Lecco, Italy
Veggiotti P:
Clinical Neurophysiology Unit, E. Medea Scientific Institute, Lecco, Italy
Airoldi G:
Clinical Neurophysiology Unit, E. Medea Scientific Institute, Lecco, Italy
Panzeri C:
Clinical Neurophysiology Unit, E. Medea Scientific Institute, Lecco, Italy
Romaniello R:
Clinical Neurophysiology Unit, E. Medea Scientific Institute, Lecco, Italy
De Polo G:
Clinical Neurophysiology Unit, E. Medea Scientific Institute, Lecco, Italy
Bonanni P:
Clinical Neurophysiology Unit, E. Medea Scientific Institute, Lecco, Italy
Cardinali S:
Clinical Neurophysiology Unit, E. Medea Scientific Institute, Lecco, Italy
Baschirotto C:
Clinical Neurophysiology Unit, E. Medea Scientific Institute, Lecco, Italy
Martorell-Sampol L:
Clinical Neurophysiology Unit, E. Medea Scientific Institute, Lecco, Italy
Borgatti R:
Clinical Neurophysiology Unit, E. Medea Scientific Institute, Lecco, Italy
Bresolin N:
Clinical Neurophysiology Unit, E. Medea Scientific Institute, Lecco, Italy
Bassi MT:
Clinical Neurophysiology Unit, E. Medea Scientific Institute, Lecco, Italy
|