Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties.

doi:10.1002/ana.24929

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Article

Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties.

Annals of neurology - 1 May 2017

Oliver Karen L, Franceschetti Silvana, Milligan Carol J, Muona Mikko, Mandelstam Simone A, Canafoglia Laura, Boguszewska-Chachulska Anna M, Korczyn Amos D, Bisulli Francesca, Di Bonaventura Carlo, Ragona Francesca, Michelucci Roberto, Ben-Zeev Bruria, Straussberg Rachel, Panzica Ferruccio, Massano João, Friedman Daniel, Crespel Arielle, Engelsen Bernt A, Andermann Frederick, Andermann Eva, Spodar Krystyna, Lasek-Bal Anetta, Riguzzi Patrizia, Pasini Elena, Tinuper Paolo, Licchetta Laura, Gardella Elena, Lindenau Matthias, Wulf Annette, Møller Rikke S, Benninger Felix, Afawi Zaid, Rubboli Guido, Reid Christopher A, Maljevic Snezana, Lerche Holger, Lehesjoki Anna-Elina, Petrou Steven, Berkovic Samuel F

Abstract excerpt

OBJECTIVE: To comprehensively describe the new syndrome of myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK), including cellular electrophysiological characterization of observed clinical improvement with fever. METHODS: We analyzed clinical, electroclinical, and neuroimaging data for 20 patients with MEAK due to recurrent KCNC1 p.R320H mutation. In vitro electrophysiological studies were...

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PMID: 28380698
DOI: 10.1002/ana.24929

Genes

KCNC1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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