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Unverricht-Lundborg disease with cystatin B gene abnormalities.

Pediatric neurology - 1 Jan 2002

Kagitani-Shimono Kuriko, Imai Katsumi, Okamoto Nobuhiko, Ono Jiro, Okada Shintaro

Abstract excerpt

The clinical, neurophysiologic, and genetic findings in two Japanese patients with the Unverricht-Lundborg type of progressive myoclonus epilepsy are described. The cystatin B gene of Patient 1 exhibited expansion of the dodecamer (12-mer) repeat located in the 5' region and a point mutation (G-->A mutation) in exon 2. The cystatin B gene of Patient 2 exhibited homozygous expansion of the dodecamer repeat. Both...

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PMID: 11814737
DOI: 10.1016/s0887-8994(01)00336-8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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