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|
|Number of pages||2|
|Journal||Bollettino - Lega Italiana contro l'Epilessia|
|Publication status||Published - Apr 2011|
ASJC Scopus subject areas
- Clinical Neurology