KCNT1 epileptic encephalopathy

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

KCNT1 epileptic encephalopathy. This is caused by mutations of the sodium-gated potassium channel subunit gene. Fully referenced neurology checklist.

Pathology

  • This is caused by mutations of the sodium-gated potassium channel subunit gene 

Clinical phenotypes

Locked: subscribe to see this section.

Neurological features

Locked: subscribe to see this section.

Psychiatric features

Locked: subscribe to see this section.

Systemic features

Locked: subscribe to see this section.

References

  1. Møller RS, Heron SE, Larsen LH, et al. Mutations in KCNT1 cause a spectrum of focal epilepsies. Epilepsia 2015; 56:e114-e120.
  2. Lim CX, Ricos MG, Dibbens LM, Heron SE. KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects. J Med Genet 2016; 53:217-225. 
  3. Bonardi CM, Heyne HO, Fiannacca M, et al. KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum. Brain 2021 (Online ahead of print).
  4. Zhou P, He N, Zhang JW, et al. Novel mutations and phenotypes of epilepsy-associated genes in epileptic encephalopathies. Genes Brain Behav 2018; doi: 10.1111/gbb.12456 (Epub ahead of print).
  5. Ishii A, Shioda M, Okumura A, et al. A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy. Gene 2013; 531:467-471.
  6. And 1 more. Subscribe to see the full list

Related checklists

Loading...