Publication | Open Access
Spectrum of K <sub>V</sub> 2.1 Dysfunction in <i>KCNB1</i> ‐Associated Neurodevelopmental Disorders
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Citations
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References
2019
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Our study establishes a platform for rapid screening of K<sub>V</sub> 2.1 functional defects caused by KCNB1 variants associated with DEE and other NDDs. This will aid in establishing KCNB1 variant pathogenicity and the mechanism of dysfunction, which will enable targeted strategies for therapeutic intervention based on molecular phenotype. ANN NEUROL 2019;86:899-912.
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