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 contribution | SCN1A mutations in a case of unclassified epilepsy with progressive cerebellar atrophy |
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Original language | Italian |
Pages (from-to) | 118-119 |
Number of pages | 2 |
Journal | Bollettino - Lega Italiana contro l'Epilessia |
Issue number | 142 |
Publication status | Published - Apr 2011 |
ASJC Scopus subject areas
- Clinical Neurology