Kv7.3 Compound Heterozygous Variants in Early Onset Encephalopathy Reveal Additive Contribution of C-Terminal Residues to PIP2-Dependent K+ Channel Gating-Reference-Cited by-同舟云学术

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Kv7.3 Compound Heterozygous Variants in Early Onset Encephalopathy Reveal Additive Contribution of C-Terminal Residues to PIP2-Dependent K+ Channel Gating

Published:2018-01-30 Issue:8 Volume:55 Page:7009-7024
ISSN:0893-7648
Container-title:Molecular Neurobiology
language:en
Short-container-title:Mol Neurobiol

Author:

Ambrosino Paolo,Freri Elena,Castellotti Barbara,Soldovieri Maria Virginia,Mosca Ilaria,Manocchio Laura,Gellera Cinzia,Canafoglia Laura,Franceschetti Silvana,Salis Barbara,Iraci Nunzio,Miceli Francesco,Ragona Francesca,Granata Tiziana,DiFrancesco Jacopo C.,Taglialatela Maurizio^ORCID

Funder

Ministero della Salute

Fondazione Telethon

Italian Ministry for University and Research

Università degli Studi di Napoli Federico II

Publisher

Springer Science and Business Media LLC

Subject

Neuroscience (miscellaneous),Cellular and Molecular Neuroscience,Neurology

Link

http://link.springer.com/article/10.1007/s12035-018-0883-5/fulltext.html

Reference54 articles.

1. Zara F, Specchio N, Striano P et al (2013) Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance. Epilepsia 54(3):425–436

2. Sands TT, Choi H (2017) Genetic testing in pediatric epilepsy. Curr Neurol Neurosci Rep 17(5):45. https://doi.org/10.1007/s11910-017-0753-y

3. Noebels J (2017) Precision physiology and rescue of brain ion channel disorders. J Gen Physiol 149(5):533–546. https://doi.org/10.1085/jgp.201711759

4. Weckhuysen S, Mandelstam S, Suls A et al (2012) KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. Ann Neurol 71(1):15–25

5. Millichap JJ, Park KL, Tsuchida T, Ben-Zeev B, Carmant L, Flamini R, Joshi N, Levisohn PM et al (2016) KCNQ2 encephalopathy: features, mutational hot spots, and ezogabine treatment of 11 patients. Neurol Genet 2(5):e96. https://doi.org/10.1212/NXG.0000000000000096

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2. CONSTITUTIVE OPENING OF THE Kv7.2 PORE ACTIVATION GATE CAUSESKCNQ2-DEVELOPMENTAL ENCEPHALOPATHY;2024-05-21

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