Encefalopatia epilettica SCN1A-correlata ad esordio precoce: Descrizione di due casi

Translated title of the contribution: SCN1A-related infantile epileptic encephalopathy: Two cases reports

M. S. Vari, M. M. Mancardi, G. Prato, F. Pinto, M. Mascaretti, P. Striano, F. Zara, A. Consales, A. Rossi, G. Ottonello, E. Veneselli, M. G. Baglietto

Research output: Contribution to journalArticle

Abstract

Dravet Syndrome (SMEI) is an idiopathic generalized epileptic syndrome presenting with heterogeneous phenotypes. Several studies have confirmed in most patients affected by SMEI1 the presence of mutations in the SCN1A gene, encoding the alpha 1 pore-forming subunit of the sodium channel. We report an 11 months old male and a three-year-old girl, both presenting with prolonged generalized or unilateral clonic seizures, typically triggered by fever. Febrile seizures progressively became long-lasting and recurred in clusters evolving into status epilepticus. A gene-based analysis identified in the first patient a novel missense mutation in the SCN1A gene (c.2584C>G), and in the second patient a novel truncation mutation (c.3099dupT). Both were de novo mutations. The female patient showed a partial response to pharmacotherapy with decrease in recurrence and severity of seizures. Differently, the male patient showed a much less favourable outcome with drug-resistant recurrent focal seizures evolving into status epilepticus, and a more severe neuropsychological impairment. Neuroimaging study showed no brain abnormalities in the female patient, while it revealed in the male patient a bilateral asymmetrical cortical dysplasia. Correlation between Dravet Syndrome and brain lesions, as observed in our male patient, was already reported (3-5). In our opinion, the association of cortical dysplasia with SCN1A mutation in our male patient may explain his more severe clinical phenotype and outcome with drug-resistant seizures and severe neuropsychological deficits.

Translated title of the contributionSCN1A-related infantile epileptic encephalopathy: Two cases reports
Original languageItalian
Pages (from-to)143-145
Number of pages3
JournalBollettino - Lega Italiana contro l'Epilessia
Issue number142
Publication statusPublished - Apr 2011

ASJC Scopus subject areas

  • Clinical Neurology

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