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Pharmacoresistant epilepsy associated with mutations in the KCNB1 and RELN genes. A case report Cover

Pharmacoresistant epilepsy associated with mutations in the KCNB1 and RELN genes. A case report

Journal of Epileptology
Volume 28 (2020): Issue 1 (December 2020)
By: ,  ,  ,  ,   and    
Open Access
|Nov 2020
Figures & tables

Figures & Tables

Figure 1.

EEG trace showing sharp waves, spikes and spike-and-wave complexes in the frontal and centrotemporal regions.

Figure 2.

Molecular testing with Next Generation Sequencing technique revealed mutations at KCNB1 gene.

Figure 3.

Molecular testing with Next Generation Sequencing technique revealed mutations a tRELN gene.

DOI: https://doi.org/10.21307/joepi-2020-006 | Journal eISSN: 2299-9728 (formerly 2300-0147) | Journal ISSN: 2300-0147
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Language: English
Page range: 73 - 77
Submitted on: Jul 31, 2020
Accepted on: Oct 15, 2020
Published on: Nov 25, 2020
Published by: The Foundation of Epileptology
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year
Keywords:
pharmacoresistant epilepsy,
KCNB1 gene,
RELN gene,
delayed speech
Related subjects:
Medicine,
Clinical medicine,
Clinical medicine, other,
Neurology,
Pharmacology, toxicology,
Pharmacy,
Clinical pharmacy

© 2020 Adamantios Katerelos, Nikolaos Zagkos, Dimitra Alexopoulou, Stella Mouskou, Anastasia Korona, Emmanouil Manolakos, published by The Foundation of Epileptology
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

Volume 28 (2020): Issue 1 (December 2020)
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