Back to Search Start Over

Reader response:SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy

Authors :
Till Hartlieb
Celina von Stülpnagel
Peter Wolf
Gerhard Kluger
Rikke S. Møller
Source :
Wolf, P, von Stülpnagel, C, Hartlieb, T, Møller, R S & Kluger, G J 2020, ' Reader response : SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy ', Neurology, vol. 94, no. 8, pp. 368-369 . https://doi.org/10.1212/WNL.0000000000009007
Publication Year :
2020

Abstract

To move a condition from its genetic definition to a comprehensive syndrome description is an important step forward, and Vlaskamp et al.1 can be thanked for having done this for SYNGAP1 . The inclusion of 57 patients in a multicenter study provided an excellent, detailed delineation of the seizure syndrome. Attention is drawn to some reflex epileptic traits, including seizures precipitated by eating. In a recent study,2 we have particularly addressed this feature and noted that, whereas eating-induced seizures commonly are related to various phases of food intake, the trigger in our cases seemed, more narrowly, to be biting and chewing. They seem, thus, to represent a pathomechanism different from other eating-induced seizures. In addition, we saw that these patients were also commonly eye-closure sensitive.

Details

Language :
English
Database :
OpenAIRE
Journal :
Wolf, P, von Stülpnagel, C, Hartlieb, T, Møller, R S & Kluger, G J 2020, ' Reader response : SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy ', Neurology, vol. 94, no. 8, pp. 368-369 . https://doi.org/10.1212/WNL.0000000000009007
Accession number :
edsair.doi.dedup.....f351955c466a32df301e351acf47f2c0
Full Text :
https://doi.org/10.1212/WNL.0000000000009007