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Article

Progressive Myoclonic Epilepsy-Associated Gene KCTD7 is a Regulator of Potassium Conductance in Neurons

27 Jun 2011

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Share to Genetics and Neurodevelopmental Disorders
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 21710140
DOI: 10.1007/s12035-011-8194-0

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Related research

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Research trail→

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Progressive Myoclonic Epilepsy-Associated Gene KCTD7 is a Regulator of Potassium Conductance in NeuronsPMID 21710140Read ↗

Compound heterozygous KCTD7 variants in progressive myoclonus epilepsy.Semantic proximity Read ↗

Novel Mutation in Potassium Channel related Gene KCTD7 and Progressive Myoclonic EpilepsySemantic proximity Read ↗

Voltage-gated potassium channels and genetic epilepsySemantic proximity Read ↗

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Pathogenic variants inKCTD7perturb neuronal K+fluxes and glutamine transportSemantic proximity Read ↗

Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia.Semantic proximity Read ↗

Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene.Semantic proximity Read ↗

Roles of KCNA2 in Neurological Diseases: from Physiology to PathologySemantic proximity Read ↗

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Kctd7 deficiency induces myoclonic seizures associated with Purkinje cell death and microvascular defects.Semantic proximity Read ↗

Progressive myoclonus epilepsy caused by a gain-of-function KCNA2 mutationSemantic proximity Read ↗

Progressive myoclonic epilepsy-associated gene <i>Kctd7</i> regulates retinal neurovascular patterning and functionSemantic proximity Read ↗

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