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Article

Quinidine therapy for West syndrome with KCNTI mutation: A case report.

Brain & development - 1 Jan 2017

Fukuoka Masataka, Kuki Ichiro, Kawawaki Hisashi, Okazaki Shin, Kim Kiyohiro, Hattori Yuka, Tsuji Hitomi, Nukui Megumi, Inoue Takeshi, Yoshida Yoko, Uda Takehiro, Kimura Sadami, Mogami Yukiko, Suzuki Yasuhiro, Okamoto Nobuhiko, Saitsu Hirotomo, Matsumoto Naomichi

Abstract excerpt

The KCNT1 gene encodes the sodium-dependent potassium channel, with quinidine being a partial antagonist of the KCNT1 channel. Gain-of-function KCNT1 mutations cause early onset epileptic encephalopathies including migrating partial seizures of infancy (MPSI). At 5months of age, our patient presented with epileptic spasms and hypsarrhythmia by electroencephalogram. Psychomotor retardation was observed from early...

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Source

Identifiers

PMID: 27578169
DOI: 10.1016/j.braindev.2016.08.002

Genes

KCNT1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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