Epileptic encephalopathy: gene specific types

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Epileptic encephalopathy: gene specific types. ALG13, ATP6V1A, BRAT1, CDKL5, CHASERR, CUX2, DNMI, FGF12/FHF1, GABAT. Fully referenced neurology checklist.

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

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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. Su S, Zhang W, Ren Y, et al. Genotype-phenotype correlations and clinical spectrum of ALG13-related developmental epileptic encephalopathy. Seizure 2026; 141:34-41.
  4. 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. 
  5. 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.
  6. And 69 more. Subscribe to see the full list

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