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http://purl.uniprot.org/citations/33639450http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/33639450http://www.w3.org/2000/01/rdf-schema#comment"

Objective

To further delineate the electroclinical features of individuals with SYNGAP1 pathogenic variants.

Methods

Participants with pathogenic SYNGAP1 variants and available video-electroencephalogram (EEG) recordings were recruited within five European epilepsy reference centers. We obtained molecular and clinical data, analyzed EEG recordings and archived video-EEGs of seizures and detailed characteristics of interictal and ictal EEG patterns for every patient.

Results

We recruited 15 previously unreported patients and analyzed 72 EEGs. Two distinct EEG patterns emerged, both triggered by eye closure. Pattern 1 (14/15 individuals) consisted of rhythmic posterior/diffuse delta waves appearing with eye-closure and persisting until eye opening (strongly suggestive of fixation-off sensitivity). Pattern 2 (9/15 individuals) consisted of diffuse polyspike-and-wave discharges triggered by eye closure (eye-closure sensitivity). Both patterns presented in 8/15. Including archived video-EEG clips of seizures from 9/15 patients, we analyzed 254 seizures. Of 224 seizures experienced while awake, 161 (72%) occurred at or following eye closure. In 119/161, pattern 1 preceded an atypical absence, myoclonic seizure or myoclonic absence; in 42/161, pattern 2 was associated with eyelid myoclonia, absences and myoclonic or atonic seizures.

Conclusions

Fixation-off and eye closure were the main triggers for seizures in this SYNGAP1 cohort.

Significance

Combining these clinical and electroencephalographic features could help guide genetic diagnosis."xsd:string
http://purl.uniprot.org/citations/33639450http://purl.org/dc/terms/identifier"doi:10.1016/j.clinph.2021.01.014"xsd:string
http://purl.uniprot.org/citations/33639450http://purl.uniprot.org/core/author"Villard L."xsd:string
http://purl.uniprot.org/citations/33639450http://purl.uniprot.org/core/author"Desguerre I."xsd:string
http://purl.uniprot.org/citations/33639450http://purl.uniprot.org/core/author"Kaminska A."xsd:string
http://purl.uniprot.org/citations/33639450http://purl.uniprot.org/core/author"Villeneuve N."xsd:string
http://purl.uniprot.org/citations/33639450http://purl.uniprot.org/core/author"Canafoglia L."xsd:string
http://purl.uniprot.org/citations/33639450http://purl.uniprot.org/core/author"Barcia G."xsd:string
http://purl.uniprot.org/citations/33639450http://purl.uniprot.org/core/author"Cances C."xsd:string
http://purl.uniprot.org/citations/33639450http://purl.uniprot.org/core/author"Nabbout R."xsd:string
http://purl.uniprot.org/citations/33639450http://purl.uniprot.org/core/author"Fontana E."xsd:string
http://purl.uniprot.org/citations/33639450http://purl.uniprot.org/core/author"Solazzi R."xsd:string
http://purl.uniprot.org/citations/33639450http://purl.uniprot.org/core/author"Dalla Bernardina B."xsd:string
http://purl.uniprot.org/citations/33639450http://purl.uniprot.org/core/author"Eisermann M."xsd:string
http://purl.uniprot.org/citations/33639450http://purl.uniprot.org/core/author"Hachon Le Camus C."xsd:string
http://purl.uniprot.org/citations/33639450http://purl.uniprot.org/core/author"Losito E."xsd:string
http://purl.uniprot.org/citations/33639450http://purl.uniprot.org/core/author"Chemaly N."xsd:string
http://purl.uniprot.org/citations/33639450http://purl.uniprot.org/core/author"Lo Barco T."xsd:string
http://purl.uniprot.org/citations/33639450http://purl.uniprot.org/core/date"2021"xsd:gYear
http://purl.uniprot.org/citations/33639450http://purl.uniprot.org/core/name"Clin Neurophysiol"xsd:string
http://purl.uniprot.org/citations/33639450http://purl.uniprot.org/core/pages"841-850"xsd:string
http://purl.uniprot.org/citations/33639450http://purl.uniprot.org/core/title"SYNGAP1-DEE: A visual sensitive epilepsy."xsd:string
http://purl.uniprot.org/citations/33639450http://purl.uniprot.org/core/volume"132"xsd:string
http://purl.uniprot.org/citations/33639450http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/33639450
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