Autism Spectrum Disorder and a De Novo Kcnq2 Gene Mutation: A Case Report
The KCNQ2 gene, encoding for the K<sub>v</sub>7.2 subunits of the K<sub>v</sub>7 voltage potassium channel, is involved in the modulation of neuronal excitability and plays a crucial role in brain morphogenesis and maturation during embryonic life. De novo heterozygous mutations in KCNQ2 genes are a...
Gorde:
| Egile Nagusiak: | , , , , |
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| Formatua: | Artigo |
| Hizkuntza: | Inglês |
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MDPI AG
2022-04-01
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| Saila: | Pediatric Reports |
| Gaiak: | |
| Sarrera elektronikoa: | https://www.mdpi.com/2036-7503/14/2/27 |
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