We report a 55-year-old woman with focal cryptogenic epilepsy and spinal muscular atrophy (SMA). Genetic analysis showed a heterozygous deletion of exons 7 and 8 of the SMN1 gene. The association of epilepsy and SMA as been rarely reported in literature. The pathophysiological mechanisms that may share these two neurological conditions remain unknown.
|Translated title of the contribution||Spinal muscolar atrophy (SMA) and epilepsy: Report of a new case|
|Number of pages||2|
|Journal||Bollettino - Lega Italiana contro l'Epilessia|
|Publication status||Published - Apr 2011|
ASJC Scopus subject areas
- Clinical Neurology