Variabilità fenotipica delle mutazioni del gene SCN1A: Descrizione di un caso clinico

Translated title of the contribution: Phenotipic variability of SCN1A mutations: Case report

R. Vergaro, S. Conti, M. C. Scaduto, M. Santucci

Research output: Contribution to journalArticle

Abstract

SCN1A is one of the most important genes in the genetics of epilepsy and more than 500 mutations have been identified to date. The phenotype includes different epileptic syndromes, SMEI (Severe myoclonic epilepsy of infancy) being the most severe. The term "borderline" SMEI has been used to designate patients in whom myoclonic and absence seizures are not present, as well as generalized spike and wave activity and severe cognitive decline. We report the case of an 8-year-old boy with SCN1A truncating mutation and focal motor seizures stopped by DZP. Seizures were not always associated with fever and poorly controlled by antiepileptic drugs. The EEG disclosed right parietal paroxysmal anomalies and the boy did not showed a severe cognitive decline in subsequent neuropsicological evaluations. These atypical clinical features, associated with SCN1A mutation usually linked to SMEI, support the hypothesis that a combination of environmental and genetic factors determine the phenotype in these patients.

Original languageItalian
Pages (from-to)221-223
Number of pages3
JournalBollettino - Lega Italiana contro l'Epilessia
Issue number145
Publication statusPublished - Apr 2013

Fingerprint

Myoclonic Epilepsy
Seizures
Mutation
Phenotype
Absence Epilepsy
Anticonvulsants
Electroencephalography
Epilepsy
Fever
Genes
Cognitive Dysfunction

ASJC Scopus subject areas

  • Clinical Neurology

Cite this

Variabilità fenotipica delle mutazioni del gene SCN1A : Descrizione di un caso clinico. / Vergaro, R.; Conti, S.; Scaduto, M. C.; Santucci, M.

In: Bollettino - Lega Italiana contro l'Epilessia, No. 145, 04.2013, p. 221-223.

Research output: Contribution to journalArticle

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