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Article

Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5.

Brain : a journal of neurology - 1 Jul 2007

Puffenberger Erik G, Strauss Kevin A, Ramsey Keri E, Craig David W, Stephan Dietrich A, Robinson Donna L, Hendrickson Christine L, Gottlieb Steven, Ramsay David A, Siu Victoria M, Heuer Gregory G, Crino Peter B, Morton D Holmes

Abstract excerpt

We used single nucleotide polymorphism (SNP) microarrays to investigate the cause of a symptomatic epilepsy syndrome in a group of seven distantly related Old Order Mennonite children. Autozygosity mapping was inconclusive, but closer inspection of the data followed by formal SNP copy number anal...

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Identifiers

PMID: 17522105
DOI: 10.1093/brain/awm100

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17522105-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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