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h1: Baylor College of Medicine - KCNQ2 curation efforts
p: KCNQ2 and KCNQ3 mutations cause benign familiar neonatal seizures (BFNS). These mutations are passed on in autosomal dominant fashion--affected individuals have seizures that usually begin in the first week of life and remit within a few months. In 2012, novel mutations in KCNQ2 were discovered that cause a more severe syndrome in which epilepsy is accompanied by developmental delay ("KCNQ2 encephalopathy"). BCM-KCNQ2 node is involved in curation/collection of pathogenic KCNQ2 mutations and/or association with different phenotypes. To have access to this private node Nishtha.Joshi@bcm.edu?subject=Access Node Request">Please Contact Administrator <br><br>
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h1: Sample KCNQ2 variants
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| Allele | Grid1 | Grid2 |
| NM_172107.2:c.1A>G | Grid1 | Grid2 |
| NM_172107.2:c.635A>G | Grid1 | Grid2 |
| NM_172107.2:c.601C>T | Grid1 | Grid2 |
| NM_172107.2:c.583T>C | Grid1 | Grid2 |
| NM_172107.2:c.638G>A | Grid1 | Grid2 |
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