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Journal of Epileptology
AHEAD OF PRINT
Open Access
A patient with Beta-Propeller Protein-Associated Neurodegeneration: a new missense mutation of the
WDR45
gene
Anastasia Ivanova
Anastasia Ivanova
,
Sviatlana Kulikova
Sviatlana Kulikova
,
Larysa Sivitskaya
Larysa Sivitskaya
,
Nina Danilenko
Nina Danilenko
and
Oleg Davydenko
Oleg Davydenko
| Jul 01, 2022
Journal of Epileptology
AHEAD OF PRINT
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Published Online:
Jul 01, 2022
Page range:
-
Received:
May 17, 2022
Accepted:
Jun 15, 2022
DOI:
https://doi.org/10.2478/joepi-2022-0001
© 2022 Anastasia Ivanova et al., published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.
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).
Figure 2.
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
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.