Adeline Vanderver Cas Simons Johanna L Schmidt Philip L Pearl Miriam Bloom Bennett Lavenstein David Miller Sean M Grimmond Ryan J Taft
10.1016/j.pediatrneurol.2013.06.024
Pediatr Neurol
2014 Jan;50(1):112-4.
kcnt1 delayed myelination leukoencephalopathy myoclonic
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/24120652/
Epilepsy / complications Epilepsy / genetics Leukoencephalopathies / complications Leukoencephalopathies / genetics Mutation / genetics Nerve Tissue Proteins / genetics Potassium Channels / genetics
Epilepsy / complications Epilepsy / genetics Leukoencephalopathies / complications Leukoencephalopathies / genetics Mutation / genetics Nerve Tissue Proteins / genetics Potassium Channels / genetics Case Reports Child Electroencephalography Humans Magnetic Resonance Imaging Male Models, Molecular Potassium Channels, Sodium-Activated KCNT1 protein, human Nerve Tissue Proteins Potassium Channels Potassium Channels, Sodium-Activated
PMC4303471
24120652
Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy
2014