De novo KCNA2 mutations cause hereditary spastic paraplegia.

Andreea Manole, Roope Männikkö, Michael G Hanna, Dimitri M Kullmann, Henry Houlden

Journal: Annals of neurology 2019;81(2):326-328

PMID: 28032718

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Abstract

Address: Department of Molecular Neuroscience and Neurogenetics Laboratory, UCL Institute of Neurology, London, United Kingdom.; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, United Kingdom.; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, United Kingdom.; Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, London, United Kingdom.

DOI: 10.1002/ana.24866

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MeSH Terms: Ataxia, Databases, Genetic, Humans, Kv1.2 Potassium Channel, Mutation, Spastic Paraplegia, Hereditary