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Article

Coexistence of Unverricht-Lundborg disease and congenital deafness: molecular resolution of a complex comorbidity.

Epilepsia - 1 Jun 2009

Kecmanović Miljana, Ristić Aleksandar J, Sokić Dragoslav, Keckarević-Marković Milica, Vojvodić Nikola, Ercegovac Marko, Janković Slavko, Keckarević Dusan, Savić-Pavićević Dusanka, Romac Stanka

Abstract excerpt

PURPOSE: We report on genetic analysis of a complex condition in a Serbian family of four siblings, wherein two had progressive myoclonic epilepsy (PME) and congenital deafness (CD), one had isolated congenital deafness (ICD), and one was healthy. METHODS AND RESULTS: Molecular diagnosis performed by Southern blotting confirmed Unverricht-Lundborg disease in the available sibling with PME/CD. In the sibling with...

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Source

Identifiers

PMID: 19170735
DOI: 10.1111/j.1528-1167.2008.01937.x

Genes

CSTB
TMPRSS3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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