KCNT1 epileptic encephalopathy
Evidence-based neurology checklist on kcnt1 epileptic encephalopathy: Pathology This is caused by mutations of the sodium-gated potassium channel subunit gene Clinical phenotypes Neurological features Psychiatric features Systemic features
Pathology
- This is caused by mutations of the sodium-gated potassium channel subunit gene
Clinical phenotypes
Neurological features
Psychiatric features
Systemic features
References
- Møller RS, Heron SE, Larsen LH, et al. Mutations in KCNT1 cause a spectrum of focal epilepsies. Epilepsia 2015; 56:e114-e120.
- 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.
- Bonardi CM, Heyne HO, Fiannacca M, et al. KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum. Brain 2021 (Online ahead of print).
- 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).
- 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.
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