The α2B-adrenergic receptor is mutant in cortical myoclonus and epilepsy.

ABSTRACT:

Objective

Autosomal dominant cortical myoclonus and epilepsy (ADCME) is characterized by distal, fairly rhythmic myoclonus and epilepsy with variable severity. We have previously mapped the disease locus on chromosome 2p11.1-q12.2 by genome-wide linkage analysis. Additional pedigrees affected by similar forms of epilepsy have been associated with chromosomes 8q, 5p, and 3q, but none of the causing genes has been identified. We aim to identify the mutant gene responsible for this form of epilepsy.

Methods

Genes included in the ADCME critical region were directly sequenced. Coimmunoprecipitation, immunofluorescent, and electrophysiologic approaches to transfected human cells have been utilized for testing the functional significance of the identified mutation.

Results

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SUBMITTER: De Fusco M 

PROVIDER: S-EPMC3932827 | biostudies-literature | 2014 Jan

REPOSITORIES: biostudies-literature