Novel SCN1A variants in Dravet syndrome and evaluating a wide approach of patient selection.
Gen Physiol Biophys
; 35(3): 333-42, 2016 Jul.
Article
em En
| MEDLINE
| ID: mdl-27045673
ABSTRACT
Voltage-gated sodium channels are essential for generation and propagation of the action potential mainly in nerve and muscle cells. Causative variants in SCN1A gene which codes the main, pore-forming subunit of the channel expressed in central nervous system are associated predominantly with Dravet syndrome (DS), as well as with generalized epilepsy with febrile seizures plus (GEFS+) making it one of the most significant epilepsy gene. Our goal was to determine whether SCN1A screening is relevant in patients with a broad range of epileptic syndromes. 52 patients diagnosed with DS, generalized epilepsy with GEFS+ or similar types of epileptic syndromes were included. Sequencing of the protein coding parts of the gene complemented with MLPA analysis was carried out. One already described nonsense variant, four novel protein truncating variants and a deletion encompassing the whole SCN1A gene were revealed, all in heterozygous state. All identified variants were found in DS patients with 85.7% sensitivity, thus supporting the role of profound SCN1A gene variants in etiology of DS phenotype. No causative variants were identified in any of non-DS epileptic patients in our cohort, suggesting a minor, but not irrelevant role for SCN1A in patients with other types of childhood epilepsy.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Testes Genéticos
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Epilepsias Mioclônicas
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Seleção de Pacientes
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Polimorfismo de Nucleotídeo Único
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Canal de Sódio Disparado por Voltagem NAV1.1
Tipo de estudo:
Diagnostic_studies
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Etiology_studies
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Evaluation_studies
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Prevalence_studies
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Prognostic_studies
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Risk_factors_studies
Limite:
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
País/Região como assunto:
Europa
Idioma:
En
Revista:
Gen Physiol Biophys
Ano de publicação:
2016
Tipo de documento:
Article