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Acta Neurologica Belgica

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01-04-2020 | Letter to the Editor

Epileptic spasm and de novo KCNB1 mutation: if it is not one potassium channel, it is another!

Author: Debopam Samanta

Published in: Acta Neurologica Belgica | Issue 2/2020

Excerpt

Dear Editor, …

Ambrosino P, Freri E, Castellotti B, Soldovieri MV, Mosca I, Manocchio L, Iraci N (2018) Kv7. 3 compound heterozygous variants in early onset encephalopathy reveal additive contribution of C-terminal residues to PIP 2-dependent K + channel gating. Mol Neurobiol. https://doi.org/10.1007/s12035-018-0883-5 CrossRefPubMed

Torkamani A, Bersell K, Jorge BS, Bjork RL, Friedman JR, Bloss CS, Cohen J, Gupta S, Naidu S, Vanoye CG, George AL (2014) De novo KCNB1 mutations in epileptic encephalopathy. Ann Neurol 76(4):529 – 40CrossRef

Saitsu H, Akita T, Tohyama J, Goldberg-Stern H, Kobayashi Y, Cohen R, Kato M, Ohba C, Miyatake S, Tsurusaki Y, Nakashima M (2015) De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing. Sci Rep 19:5:15199CrossRef

Thiffault I, Speca DJ, Austin DC, Cobb MM, Eum KS, Safina NP, Grote L, Farrow EG, Miller N, Soden S, Kingsmore SF (2015) A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2. 1 ion selectivity, expression, and localization. J Gen Physiol 146(5):399–410CrossRef

de Kovel CG, Syrbe S, Brilstra EH, Verbeek N, Kerr B, Dubbs H, Bayat A, Desai S, Naidu S, Srivastava S, Cagaylan H (2017 1) Neurodevelopmental disorders caused by de novo variants in KCNB1 genotypes and phenotypes. JAMA Neurol 74(10):1228–1236CrossRef

Title: Epileptic spasm and de novo KCNB1 mutation: if it is not one potassium channel, it is another!
Author: Debopam Samanta
Publication date: 01-04-2020
Publisher: Springer International Publishing
Published in: Acta Neurologica Belgica / Issue 2/2020
Print ISSN: 0300-9009
Electronic ISSN: 2240-2993
DOI: https://doi.org/10.1007/s13760-018-0950-8

At a glance: The STEP trials

Springer Medicine

Epileptic spasm and de novo KCNB1 mutation: if it is not one potassium channel, it is another!

Excerpt

At a glance: The STEP trials

Springer Medicine

Excerpt

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