De novo KCNT1 mutations in early-onset epileptic encephalopathy.

C, Ohba; M, Kato; N, Takahashi; H, Osaka; T, Shiihara; J, Tohyama; S, Nabatame; J, Azuma; Y, Fujii; M, Hara; R, Tsurusawa; T, Inoue; R, Ogata; Y, Watanabe; N, Togashi; H, Kodera; M, Nakashima; Y, Tsurusaki; N, Miyake; F, Tanaka; H, Saitsu; N, Matsumoto

doi:10.1111/epi.13072

Public

De novo KCNT1 mutations in early-onset epileptic encephalopathy.

Shared by NobleBlocks on Jul 3, 2015 • 12:00 AM UTC

Authors:

Ohba C

Kato M

Takahashi N

Abstract

KCNT1 mutations have been found in epilepsy of infancy with migrating focal seizures (EIMFS; also known as migrating partial seizures in infancy), autosomal dominant nocturnal frontal lobe epilepsy, and other types of early onset epileptic encephalopathies (EOEEs). We performed KCNT1-targeted next-g...

Subject

De Novo Mutation

Kcnt1

Early Onset Epileptic Encephalopathies

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