Potassium voltage-gated channel subfamily H member 1 (KCNH1) missense mutation causing epileptic encephalopathy and autistic behaviour
The phenotypically similar genetic diseases Zimmermann-Laband syndrome (ZLS) and Temple-Baraitser syndrome (TMBTS) cause neurodevelopmental problems. Mutations in the gene coding for potassium voltage-gated channel, primarily KCNH1, cause these symptoms. An uncommon mutation in KCNH1 (p.Arg357Trp)...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Pakistan Medical Association
2023-08-01
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| Series: | Journal of the Pakistan Medical Association |
| Online Access: | https://ojs.jpma.org.pk/index.php/public_html/article/view/6766 |