SYNGAP1 epileptic encephalopathy

Evidence-based neurology checklist on syngap1 epileptic encephalopathy: Genetics This is caused by mutations in the SYNGAP1 gene on chromosome 6 It may also be caused by microdeletions and chromosomal translocations SYNGAPs is involved in the NMDA receptor activated RAS-signalling cascade Seizure…

Genetics

  • This is caused by mutations in the SYNGAP1 gene on chromosome 6
  • It may also be caused by microdeletions and chromosomal translocations
  • SYNGAPs is involved in the NMDA receptor activated RAS-signalling cascade

Seizure types

Developmental features

Other features

Magnetic resonance imaging (MRI) brain: features

Electroencephalogram (EEG): features

Treatment

Outcomes

Synonym

References

  1. Vlaskamp DRM, Shaw BJ, Burgess R, et al.SYNGAP1 encephalopathy: a distinctive generalized developmental and epileptic encephalopathy. Neurology 2019; 92:e96-e107. 
  2. von Stülpnagel C, Hartlieb T, Borggräfe I, et al. Chewing induced reflex seizures ("eating epilepsy") and eye closure sensitivity as a common feature in pediatric patients with SYNGAP1 mutations: review of literature and report of 8 cases. Seizure 2019; 65:131-137.
  3. von Stülpnagel C, Funke C, Haberl C, et al. SYNGAP1 mutation in focal and generalized epilepsy: a literature overview and a case report with special aspects of the EEG. Neuropediatrics 2015; 46:287-291.
  4. Benjamin R Thomas BR, Ludwig NN, Falligant JM, Kurtz PF, Smith-Hicks C. Severe behavior problems in SYNGAP1-related disorder: A summary of 11 consecutive patients in a tertiary care specialty clinic. Epilepsy Behav 2024; 150:109584.
  5. Mignot C, von Stülpnagel C, Nava C, et al. Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy. J Med Genet 2016; 53:511-522.
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