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

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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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