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

KL Oliver; S Franceschetti; CJ Milligan; M Muona; SA Mandelstam; L Canafoglia; AM Boguszewska-Chachulska; AD Korczyn; F Bisulli; C Di Bonaventura; F Ragona; R Michelucci; B Ben-Zeev; R Straussberg; F Panzica; J Massano; D Friedman; A Crespel; BA Engelsen; F Andermann; E Andermann; K Spodar; A Lasek-Bal; P Riguzzi; E Pasini; P Tinuper; L Licchetta; E Gardella; M Lindenau; A Wulf; RS Møller; F Benninger; Z Afawi; G Rubboli; CA Reid; S Maljevic; H Lerche; AE Lehesjoki; S Petrou; SF Berkovic

Journal article

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

KL Oliver, S Franceschetti, CJ Milligan, M Muona, SA Mandelstam, L Canafoglia, AM Boguszewska-Chachulska, AD Korczyn, F Bisulli, C Di Bonaventura, F Ragona, R Michelucci, B Ben-Zeev, R Straussberg, F Panzica, J Massano, D Friedman, A Crespel, BA Engelsen, F Andermann Show all

Annals of Neurology | WILEY | Published : 2017

DOI: 10.1002/ana.24929

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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 KV3.1 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 qui..

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University of Melbourne Researchers

Karen L Oliver Author

Christopher Reid Author

Snezana Maljevic Author

Sam Berkovic Author

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Awarded by Folkhälsanin Tutkimussäätiö

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.