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KCNT1 mutations in ADNFLE and MMPSI: a new driver in the etiology and pathophysiology of early-onset epileptic syndromes

Authors

  • F Aminkeng

    Corresponding author
    • Department of Medical Genetics, The Canadian Pharmacogenomic Network for Drug Safety (CPNDS), Center for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, BC, Canada
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e-mail: folefac@cmmt.ubc.ca

Abstract

Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy

Heron et al. (2012)

Nature Genetics 44(11): 1188–1190.

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

Barcia et al. (2012)

Nature Genetics 44(11): 1255–1259.

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