Myoclonus epilepsy and ataxia due toKCNC1mutation: Analysis of 20 cases and K+channel properties

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

Publikováno v: Oliver, K L, Franceschetti, S, Milligan, C J, Muona, M, Mandelstam, S A, Canafoglia, L, Boguszewska-Chachulska, A M, Korczyn, A D, Bisulli, F, Di Bonaventura, C, Ragona, F, Michelucci, R, Ben-Zeev, B, Straussberg, R, Panzica, F, Massano, J, Friedman, D, Crespel, A, Engelsen, B A, Andermann, F, Andermann, E, Spodar, K, Lasek-Bal, A, Riguzzi, P, Pasini, E, Tinuper, P, Licchetta, L, Gardella, E, Lindenau, M, Wulf, A, Møller, R S, Benninger, F, Afawi, Z, Rubboli, G, Reid, C A, Maljevic, S, Lerche, H, Lehesjoki, A-E, Petrou, S & Berkovic, S F 2017, ' Myoclonus epilepsy and ataxia due to KCNC1 mutation : Analysis of 20 cases and K(+) channel properties ', Annals of Neurology, vol. 81, no. 5, pp. 677-689 . https://doi.org/10.1002/ana.24929

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 analyz

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https://doi.org/10.1002/ana.24929