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Article

Clinical features of a female with WDR45 mutation complicated by infantile spasms: a case report and literature review.

Brain & development - 1 Oct 2017

Morikawa Manami, Takano Kyoko, Motobayashi Mitsuo, Shiba Naoko, Kosho Tomoki, Nakazawa Yozo, Inaba Yuji

Abstract excerpt

We present a 3-year-old girl with beta-propeller protein-associated neurodegeneration (BPAN) who had a de novo heterozygous splice-site mutation of c.831-1G>C in WDR45 and developed infantile spasms; her onset age of infantile spasms was relatively late. Her infantile spasms and hypsarrhythmia disappeared promptly by adrenocorticotropic hormone therapy (CORTROSYN®Z, 0.0125mg/kg/day daily for 2weeks...

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PMID: 28551038
DOI: 10.1016/j.braindev.2017.05.003

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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