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A patient with Beta-Propeller Protein-Associated Neurodegeneration: a new missense mutation of the WDR45 gene Cover

A patient with Beta-Propeller Protein-Associated Neurodegeneration: a new missense mutation of the WDR45 gene

Journal of Epileptology
AHEAD OF PRINT
By: Anastasia Ivanova,  Sviatlana Kulikova,  Larysa Sivitskaya,  Nina Danilenko and  Oleg Davydenko  
Open Access
|Jul 2022

Figures & Tables

Figure 1.

A – Spike-polyspike-wave epileptiform activity of a high index in the right frontotemporal leads (4 y.o). B – Sharp-slow wave complexes in the right fronto-centrotemporal leads, periodically with diffuse spread (9 y.o).
A – Spike-polyspike-wave epileptiform activity of a high index in the right frontotemporal leads (4 y.o). B – Sharp-slow wave complexes in the right fronto-centrotemporal leads, periodically with diffuse spread (9 y.o).

Figure 2.

The patient is nine years old. The stereotypical movements of the hand (twisting objects, putting hands in the mouth) are observed.
The patient is nine years old. The stereotypical movements of the hand (twisting objects, putting hands in the mouth) are observed.

Figure 3.

Iron accumulation in the substantia nigra and globus pallidus in T2-weighted (a, b) and FLAIR (c, d) scans
Iron accumulation in the substantia nigra and globus pallidus in T2-weighted (a, b) and FLAIR (c, d) scans

Figure 4.

Sanger sequencing demonstrated that the proband is heterozygous for the c.755T>C variant of the WDR45 gene (NM_001029896.2). De novo origin was shown with the unaffected patient’s mother and father.
Sanger sequencing demonstrated that the proband is heterozygous for the c.755T>C variant of the WDR45 gene (NM_001029896.2). De novo origin was shown with the unaffected patient’s mother and father.
DOI: https://doi.org/10.2478/joepi-2022-0001 | Journal eISSN: 2299-9728 | Journal ISSN: 2300-0147
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Language: English
Submitted on: May 17, 2022
|
Accepted on: Jun 15, 2022
|
Published on: Jul 1, 2022
Published by: The Foundation of Epileptology
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year
Keywords:
epilepsy,
gene,
BPAN,
NBIA,
developmental delay
Related subjects:
Medicine,
Clinical medicine,
Clinical medicine, other,
Neurology,
Pharmacology, toxicology,
Pharmacy,
Clinical pharmacy

© 2022 Anastasia Ivanova, Sviatlana Kulikova, Larysa Sivitskaya, Nina Danilenko, Oleg Davydenko, published by The Foundation of Epileptology
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

AHEAD OF PRINT