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Article

Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene.

Journal of medical genetics - 1 Jun 2012

Kousi Maria, Anttila Verneri, Schulz Angela, Calafato Stella, Jakkula Eveliina, Riesch Erik, Myllykangas Liisa, Kalimo Hannu, Topçu Meral, Gökben Sarenur, Alehan Fusun, Lemke Johannes R, Alber Michael, Palotie Aarno, Kopra Outi, Lehesjoki Anna-Elina

Abstract excerpt

BACKGROUND: The progressive myoclonus epilepsies (PMEs) comprise a group of clinically and genetically heterogeneous disorders characterised by myoclonus, epilepsy, and neurological deterioration. This study aimed to identify the underlying gene(s) in childhood onset PME patients with unknown molecular genetic background. METHODS: Homozygosity mapping was applied on genome-wide single nucleotide polymorphism data...

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Identifiers

PMID: 22693283
DOI: 10.1136/jmedgenet-2012-100859
PMCID: PMC3773914

Genes

KCTD7

Provenance

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