Data di Pubblicazione:
2008
Citazione:
Cryptogenic Epileptic Syndromes Related to SCN1A Twelve Novel Mutations Identified / C. Zucca, F. Redaelli, R. Epifanio, N. Zanotta, A. Romeo, M. Lodi, P. Veggiotti, G. Airoldi, C. Panzeri, R. Romaniello, G. De Polo, P. Bonanni, S. Cardinali, C. Baschirotto, L. Martorell, R. Borgatti, N. Bresolin, M.T. Bassi. - In: ARCHIVES OF NEUROLOGY. - ISSN 0003-9942. - 65:4(2008), pp. 489-494.
Abstract:
Background: 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.
Objective: To search for disease-causing mutations in SCN1A in patients with cryptogenic epileptic syndromes (ie, syndromes with an unknown cause).
Design: Clinical characterization and molecular genetic analysis of a cohort of patients.
Setting: University hospitals, rehabilitation centers, and molecular biology laboratories.
Patients: Sixty unrelated patients with cryptogenic epileptic syndromes.
Main Outcome Measures: Samples of DNA were analyzed for mutations and for large heterozygous deletions encompassing the SCN1A gene. A search for microdeletions in the SCN1A gene was also performed in the subset of patients with SMEI/SMEI-borderland who had negative results at the point mutation screening.
Results: No large deletions at the SCN1A locus were found in any of the patients analyzed. In contrast, 13 different point mutations were identified in 12 patients: 10 with SMEI, 1 with generalized epilepsy with febrile seizures plus, and 1 with cryptogenic focal epilepsy. An additional search for SCN1A intragenic microdeletions in the remaining patients with SMEI/SMEI-borderland and no point mutations was also negative.
Conclusions: These results confirm the role of the SCN1A gene in different types of epilepsy, including cryptogenic epileptic syndromes. However, large deletions encompassing SCN1A were not common disease-causing rearrangements in this group of epilepsies.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
Severe myoclonic epilepsy; de-novo mutations; febrile seizures plus; channel gene SCN1A; generalized epilepsy; infancy; deletions; SMEI
Elenco autori:
C. Zucca, F. Redaelli, R. Epifanio, N. Zanotta, A. Romeo, M. Lodi, P. Veggiotti, G. Airoldi, C. Panzeri, R. Romaniello, G. De Polo, P. Bonanni, S. Cardinali, C. Baschirotto, L. Martorell, R. Borgatti, N. Bresolin, M.T. Bassi
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