Epileptic encephalopathy: gene specific types

Evidence-based neurology checklist on epileptic encephalopathy: gene specific types: A-I ALG13 ATP6V1A BRAT1 CDKL5 CHASERR CUX2 DNMI FGF12/FHF1 GABAT GABR GLUT-1 (SLC2A1) GMAT GRIN2B GRIN2D HCN1 IER3IP1 IQSEC2 K-W

A-I

  • ALG13
  • ATP6V1A
  • BRAT1
  • CDKL5
  • CHASERR
  • CUX2
  • DNMI
  • FGF12/FHF1
  • GABAT
  • GABR
  • GLUT-1 (SLC2A1)
  • GMAT
  • GRIN2B
  • GRIN2D
  • HCN1
  • IER3IP1
  • IQSEC2

K-W

References

  1. Datta AN, Bahi-Buisson N, Bienvenu T, et al. The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy. Epilepsia 2021; 62:325-334.
  2. Ng BG, Eklund EA, Shiryaev SA, et al. Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: clinical description, biomarker status, biochemical analysis, and treatment suggestions. J Inherit Metab Dis 2020; 43:1333-1348.
  3. Fassio A, Esposito A, Kato M, et al. De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy. Brain 2018; 141:1703-1718. 
  4. van de Pol LA, Wolf NI, van Weissenbruch MM, et al. Early-onset severe encephalopathy with epilepsy: the BRAT1 gene should be added to the list of causes. Neuropediatrics 2015; 46:392-400.
  5. Pourahmadiyan A, Heidari M, Shojaaldini Ardakani H, Noorian S, Savad S. A novel pathogenic variant of BRAT1 gene causes rigidity and multifocal seizure syndrome, lethal neonatal. Int J Neurosci 2020 (Epub ahead of print).
  6. And 68 more. Subscribe to see the full list

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