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. 2020 Dec 3;7:43. doi: 10.1038/s41439-020-00131-9

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© The Author(s) 2020

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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Fig. 1 — a Electroencephalography (EEG) results of the patient showing hypsarrhythmia during wakefulness at 9 months of age. b Ictal EEG results showing cluster spasms with head drop at 9 months of age. c EEG results at 11 months of age and after adrenocorticotropic hormone therapy. Sporadic slow waves were observed in the bitemporal regions. d, e Brain MRI T1-weighted and f, g T2-weighted images of the patient at the age of 15 months. Three pediatric neurologists independently confirmed the absence of periventricular nodular heterotopia. h, i Brain MRI T1-weighted and j, k T2-weighted images of the patient at the age of 29 months. l Filamin A protein with functional domains and FLNA variants found in males. Functional domains consist of the actin-binding domain containing two calponin homology (CH) domains and 24 Ig domains. Pathogenic variants detected in males are shown as triangles below Filamin A. FLNA variants in PVNH1 or in epilepsy without PVNH are shown as black or red triangles. Filled or open triangles indicate nonsense or missense/in-flame changes.