Vol. 5 (2021): International Journal of Case Reports
Case Reports

SYNGAP1 Mutation in absence Epilepsy with eyelid myoclonia: A Literature Overview and A Case Report from Qatar

Rana AL-Shami , Sondos Altaraqji, Khalid Mohamed
Pediatric Neurology Sidra Medicine

Keywords

  • SYNGAP1; Epilepsy, Pediatric

How to Cite

Rana AL-Shami , Sondos Altaraqji, Khalid Mohamed. (2021). SYNGAP1 Mutation in absence Epilepsy with eyelid myoclonia: A Literature Overview and A Case Report from Qatar. International Journal of Case Reports, 5, 211. https://doi.org/10.28933/ijcr-2021-03-3007

Abstract

Background: SYNGAP1, which encodes a RAS-GTPase-activating protein, is located on the short arm of chromosome 6.Mutations of the SYNGAP1 gene were first identified in 2009 in patients with nonsyndromic intellectual disability (ID) acquired microcephaly, and autism spectrum disorder (ASD), followed in 2013 by recognition of their important role in the developmental and epileptic encephalopathies (DEEs). Developmental delay was identified soon after birth in the majority of patients and pre-ceded seizure onset in all. Development regressed or plateaued with seizure onset were observed. Language was severely impaired together with intellectual disabilities and some other features (1, 4).Most affected individuals have de novo mutations, with truncating mutations predominating, although missense mutations, chromosomal translocations, or microdeletions disrupting SYNGAP1 are also described. (1,5).

 

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