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Article

Infantile spasms and 15q11.2q13.1 chromosome duplication in two successive generations.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Jan 2016

Riikonen Raili Sylvia, Wallden Tiina, Kokkonen Hannaleena

Abstract excerpt

Familial cases of West syndrome have been reported only in Japan. In that study no chromosomal analyses were made. It has been suggested that microarray analysis should be included in the diagnostic evaluation of patients with infantile spasms and developmental delay, when an evaluation for structural brain lesions and metabolic disorders reveal no abnormal findings. We report here the first case of infantile...

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Source

Identifiers

PMID: 26685108
DOI: 10.1016/j.ejpn.2015.11.005

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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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