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Article

Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome.

Human genetics - 1 Mar 2013

Karkheiran Siamak, Krebs Catharine E, Makarov Vladimir, Nilipour Yalda, Hubert Benjamin, Darvish Hossein, Frucht Steven, Shahidi Gholam Ali, Buxbaum Joseph D, Paisán-Ruiz Coro

Abstract excerpt

In this study, a consanguineous family with progressive myoclonus epilepsy (PME) was clinically examined and molecularly investigated to determine the molecular events causing disease. Since exclusion of known genes indicated that novel genes causing PME still remained unidentified, homozygosity mapping, exome sequencing, as well as validation and disease-segregation analyses were subsequently carried out for...

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PMID: 23138527
DOI: 10.1007/s00439-012-1248-1

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