Journal article

Myoclonus Epilepsy and Ataxia due to KCNC1 Mutation: Analysis of 20 Cases and K plus Channel Properties

Karen L Oliver, Silvana Franceschetti, Carol J Milligan, Mikko Muona, Simone A Mandelstam, Laura Canafoglia, Anna M Boguszewska-Chachulska, Amos D Korczyn, Francesca Bisulli, Carlo Di Bonaventura, Francesca Ragona, Roberto Michelucci, Bruria Ben-Zeev, Rachel Straussberg, Ferruccio Panzica, Joao Massano, Daniel Friedman, Arielle Crespel, Bernt A Engelsen, Frederick Andermann Show all

Annals of Neurology | WILEY | Published : 2017

Abstract

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 conducted using whole cell patch-clamp to explore biophysical properties of wild-type and mutant KV 3.1 channels. RESULTS: Symptoms began at between 3 and 15 years of age (median = 9.5), with progressively severe myoclonus and rare tonic-clonic seizures. Ataxia was present early, but qu..

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Grants

Awarded by National Health and Medical Research Council


Awarded by German Network for Rare Diseases of the Federal Ministry of Education and Research


Awarded by European Science Foundation (German Research Foundation)


Awarded by Telethon Foundation


Funding Acknowledgements

S.F.B. was supported by a National Health and Medical Research Council program grant (628952); S.M. and H.L. received support from the German Network for Rare Diseases of the Federal Ministry of Education and Research (IonNeurONet 01GM1105A) and the EuroE-PINOMICS program of the European Science Foundation (German Research Foundation grant Le1030/11-1). F.Bi., L.L., and P.T. thank the Telethon Foundation (grant GGP 13200 to P.T.) for financial support. A.-E.L. was supported by the Folkhalsan Research Foundation, Helsinki, Finland. M.M. was supported by the Doctoral Program of Biomedicine, Emil Aaltonen Foundation, University of Helsinki Funds, Epilepsy Research Foundation, Arvo and Lea Ylppo Foundation, Finnish Brain Foundation, Paulo Foundation, and Biomedicum Helsinki Foundation.