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We identified a novel de novo KCNT1 variant in a patient with early‐infantile epileptic encephalopathy (EIEE) and status dystonicus, a life‐threatening movement disorder. We determined the functional consequences of this… Click to show full abstract
We identified a novel de novo KCNT1 variant in a patient with early‐infantile epileptic encephalopathy (EIEE) and status dystonicus, a life‐threatening movement disorder. We determined the functional consequences of this variant on the encoded KNa1.1 channel to investigate the molecular mechanisms responsible for this disorder.
Keywords:
kcnt1 variant;
functional consequences;
status dystonicus
Journal Title: Annals of Clinical and Translational Neurology
Year Published: 2019
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Journal Title: Annals of Clinical and Translational Neurology
Year Published: 2019
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!