Mutazioni di SCN1A in un caso di epilessia di incerta classificazione con atrofia cerebellare progressiva

Translated title of the contribution: SCN1A mutations in a case of unclassified epilepsy with progressive cerebellar atrophy

N. Zanotta, R. Romaniello, S. Arcieri, E. Tenderini, M. T. Bassi, R. Borgatti, C. Zucca

Research output: Contribution to journalArticlepeer-review

Abstract

We report a child affected by unclassified epilepsy with febrile and afebrile seizures, mental retardation and progressive cerebellar atrophy, who also carried two heterozygous mutations of sodium channel alpha-subunit (SCN1A) gene. The same SCN1A mutations were found in his mother who only presented a febrile convulsion at the age of 9 months. Our data suggest evidence that SCN1A mutations might be responsible, other than epilepsy, also for progressive cerebellar atrophy as reported in models of different channelopathies.

Translated title of the contributionSCN1A mutations in a case of unclassified epilepsy with progressive cerebellar atrophy
Original languageItalian
Pages (from-to)118-119
Number of pages2
JournalBollettino - Lega Italiana contro l'Epilessia
Issue number142
Publication statusPublished - Apr 2011

ASJC Scopus subject areas

  • Clinical Neurology

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