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Article

Genotype-phenotype correlation on 45 individuals with West syndrome.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Mar 2020

Krey Ilona, Krois-Neudenberger Janna, Hentschel Julia, Syrbe Steffen, Polster Tilman, Hanker Britta, Fiedler Barbara, Kurlemann Gerhardt, Lemke Johannes R

Abstract excerpt

West syndrome is an epilepsy syndrome characterized by repetitive epileptic spasms (ES) and hypsarrhythmia, typically leading to developmental delay/intellectual disability (DD/ID). It is considered a classic epileptic encephalopathy (EE). We designed a diagnostic sequencing panel targeting 131 genes associated with epilepsy and/or EE and screened a cohort of 45 individuals with clinical diagnosis of West...

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Identifiers

PMID: 31791873
DOI: 10.1016/j.ejpn.2019.11.010

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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