Three Cases of KCNT1 Mutations: Malignant Migrating Partial Seizures in Infancy with Massive Systemic to Pulmonary Collateral Arteries

Yuki Kawasaki; Ichiro Kuki; Eiji Ehara; Yosuke Murakami; Shin Okazaki; Hisashi Kawawaki; Munetsugu Hara; Yoriko Watanabe; Shintaro Kishimoto; Kenji Suda; Hirotomo Saitsu; Naomichi Matsumoto

doi:10.1016/j.jpeds.2017.08.057

Three Cases of KCNT1 Mutations: Malignant Migrating Partial Seizures in Infancy with Massive Systemic to Pulmonary Collateral Arteries

J Pediatr. 2017 Dec:191:270-274. doi: 10.1016/j.jpeds.2017.08.057. Epub 2017 Oct 5.

Authors

Affiliations

¹ Department of Pediatric Cardiology, Osaka City General Hospital, Osaka, Japan. Electronic address: [email protected].
² Department of Pediatric Neurology, Osaka City General Hospital, Osaka, Japan.
³ Department of Pediatric Cardiology, Osaka City General Hospital, Osaka, Japan.
⁴ Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Japan.
⁵ Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
⁶ Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.

PMID: 28987752
DOI: 10.1016/j.jpeds.2017.08.057

Abstract

KCNT1 mutations are gain-of-function mutations in potassium channels resulting in severe infantile epilepsy. Herein we describe 3 infants with malignant migrating partial seizures with KCNT1 mutations accompanied by massive systemic to pulmonary collateral arteries with life-threatening hemoptysis and heart failure.

Keywords: epilepsy; gain-of-function mutations; heart failure; hemoptysis; potassium channel.

Publication types

Case Reports

MeSH terms

Collateral Circulation*
Epilepsies, Partial / diagnosis
Epilepsies, Partial / genetics*
Epilepsies, Partial / physiopathology
Fatal Outcome
Female
Gain of Function Mutation*
Genetic Markers
Humans
Infant, Newborn
Male
Nerve Tissue Proteins / genetics*
Potassium Channels / genetics*
Potassium Channels, Sodium-Activated
Pulmonary Artery / physiopathology*

Substances

Genetic Markers
KCNT1 protein, human
Nerve Tissue Proteins
Potassium Channels
Potassium Channels, Sodium-Activated