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Article

Whole-exome sequencing and adrenocorticotropic hormone therapy in individuals with infantile spasms.

Developmental medicine and child neurology - 1 May 2022

Demarest Scott, Calhoun Jeff, Eschbach Krista, Yu Hung-Chun, Mirsky David, Angione Katie, Shaikh Tamim H, Carvill Gemma L, Benke Tim A

Abstract excerpt

AIM: To identify additional genes associated with infantile spasms using a cohort with defined infantile spasms. METHOD: Whole-exome sequencing (WES) was performed on 21 consented individuals with infantile spasms and their unaffected parents (a trio-based study). Clinical history and imaging were reviewed. Potentially deleterious exonic variants were identified and segregated. To refine potential candidates,...

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PMID: 35830182
DOI: 10.1111/dmcn.15109

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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