Adult motor phenotype differentiates Dravet syndrome from Lennox-Gastaut syndrome and links SCN1A to early onset parkinsonian features

(Aljaafari, et. al. 2017). In this brief communication, published in Epilepsia, the authors examined the motor differences between 14 adult patients with Dravet syndrome (DS) and 14 adult patients with Lennox-Gastaut syndrome (LGS). They chose Lennox-Gastaut because previous findings showed that adult patients with DS exhibited early-onset parkinsonian features, and they wanted to determine whether these features were the result of SCN1A mutations themselves (not present in LGS), or years of treatment with multiple anti-epileptic drugs (AEDs), which is common in both LGS and DS. Their previous work described antecollis (a crouched neck position), parkinsonian gait, and other parkinson-like features, as well as improvement in some features upon treatment with levodopa. In this study, 9/14 DS patients had antecollis compared to 1/14 LGS patients, and 8/14 DS had parkinsonian gait compared to 1/14 LGS patients, suggesting that the parkinsonian features are linked to DS (perhaps SCN1A) rather than AED treatment itself. These differences in gait and motor function may also help distinguish DS from LGS in adulthood, when many characteristics of each syndrome (such as status seizures in DS and specific EEG patterns in LGS) are not always present to the extent they are in childhood. 

Aljaafari, D., Fasano, A., Nascimento, F., Lang, A., Andrade, D. (2017). Adult motor phenotype differentiates Dravet syndrome from Lennox-Gastaut syndrome and links SCN1A to early onset parkinsonian features. Epilepsia 2017 Feb 10. DOI: 10.1111/epi.13692 http://onlinelibrary.wiley.com/doi/10.1111/epi.13692/abstract?campaign=wolsavedsearch