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Article

Pathogenic variants inKCTD7perturb neuronal K+fluxes and glutamine transport

14 Oct 2016

Abstract excerpt

Progressive myoclonus epilepsy is a heterogeneous group of disorders characterized by myoclonic and tonic-clonic seizures, ataxia and cognitive decline. We here present two affected brothers. At 9 months of age the elder brother developed ataxia and myoclonic jerks. In his second year he lost the ability to walk and talk, and he developed drug-resistant progressive myoclonus epilepsy. The cerebrospinal fluid...

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PMID: 27742667
DOI: 10.1093/brain/aww244

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