Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified.
Arch Neurol
; 65(4): 489-94, 2008 Apr.
Article
en En
| MEDLINE
| ID: mdl-18413471
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 OUTCOMEMEASURES:
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.
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Análisis Mutacional de ADN
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Canales de Sodio
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Epilepsia
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Proteínas del Tejido Nervioso
Tipo de estudio:
Diagnostic_studies
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Observational_studies
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Prognostic_studies
Límite:
Adolescent
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Adult
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Child
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Child, preschool
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Female
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Humans
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Infant
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Male
Idioma:
En
Revista:
Arch Neurol
Año:
2008
Tipo del documento:
Article
País de afiliación:
Italia