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Reader response:SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy
- 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.
- Subjects :
- medicine.medical_specialty
Food intake
business.industry
Epileptic encephalopathy
digestive, oral, and skin physiology
Encephalopathy
Audiology
SYNGAP1
medicine.disease
03 medical and health sciences
Epilepsy
0302 clinical medicine
Biting
Multicenter study
medicine
Reflex
030212 general & internal medicine
Neurology (clinical)
business
030217 neurology & neurosurgery
Subjects
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