Association of type IV spinal muscular atrophy (SMA) with myoclonic epilepsy within a single family

Conclusions: The association of SMA with myoclonic epilepsy may constitute a separate and genetically independent syndrome with unique clinical and electrophysiological findings. Collection of similar cases with genetic studies is needed to define the phenotype clearly and to identify new genes and molecular pathogenetic mechanisms involved in this condition.
Source: International Archives of Medicine - Category: Global & Universal Authors: Source Type: research