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Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia
BACKGROUND: Since 1994, over 50 families affected by the episodic ataxia type 1 disease spectrum have been described with mutations in KCNA1, encoding the voltage-gated K(+) channel subunit Kv1.1. All of these mutations are either transmitted in an autosomal-dominant mode or found as de novo events....
Tallennettuna:
| Julkaisussa: | J Med Genet |
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| Päätekijät: | , , , , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
BMJ Publishing Group
2020
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7029237/ https://ncbi.nlm.nih.gov/pubmed/31586945 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2019-106373 |
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