Varaico: Literature-Extracted Genetic Variants

Gene:SYNGAP1
Variant:p.E656*
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SYNGAP1

NM_006772.3:p.E656*

Associated Papers

Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies.

Barcia G et al.

Epilepsia Open, 2025

40347095 (PubMed )
Supplement: EPI4-10-1065-s001.xlsx › Targeted_NGS

Candidate Genes for Eyelid Myoclonia with Absences, Review of the Literature.

Mayo S et al.

International Journal of Molecular Sciences, 2021

SYNGAP1-DEE: A visual sensitive epilepsy.

Lo Barco T et al.

Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology, 2021

Add-on cannabidiol significantly decreases seizures in 3 patients with SYNGAP1 developmental and epileptic encephalopathy.

Kuchenbuch M et al.

Epilepsia Open, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."