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To further clarify genotype:phenotype correlations associated with variants in KCNC1 encoding the voltage‐gated potassium (K+) channel subunit Kv3.1 and which are an emerging cause of a spectrum of neurological disease… Click to show full abstract
To further clarify genotype:phenotype correlations associated with variants in KCNC1 encoding the voltage‐gated potassium (K+) channel subunit Kv3.1 and which are an emerging cause of a spectrum of neurological disease including intellectual disability, isolated myoclonus, progressive myoclonus epilepsy, and developmental and epileptic encephalopathy.
Keywords:
disorder due;
neurological disorder;
related neurological;
due gain;
kcnc1 related;
gain kv3
Journal Title: Annals of Clinical and Translational Neurology
Year Published: 2022
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Journal Title: Annals of Clinical and Translational Neurology
Year Published: 2022
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!