John Libbey Eurotext

Epileptic Disorders

The Educational Journal of the International League Against Epilepsy

Volume 18, supplément 2, September 2016

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En accès libre Progressive Myoclonus Epilepsies: State-of-the-Art (p.1-164)
Invited Editors: Berge A. Minassian, Pasquale Striano, Giuliano Avanzini

Preface

En accès libre Progressive Myoclonus Epilepsy: The Gene-Empowered Era (p.1-2)
Berge A. Minassian, Pasquale Striano, Giuliano Avanzini

Review articles

En accès libre The history of progressive myoclonus epilepsies (p.3-10)
Pierre Genton, Pasquale Striano, Berge A. Minassian

En accès libre Neurophysiology of myoclonus and progressive myoclonus epilepsies (p.11-27)
Giuliano Avanzini, Hiroshi Shibasaki, Guido Rubboli, Laura Canafoglia, Ferruccio Panzica, Silvana Franceschetti, Mark Hallett

En accès libre Unverricht-Lundborg disease (p.28-37)
Arielle Crespel, Edoardo Ferlazzo, Silvana Franceschetti, Pierre Genton, Riadh Gouider, Reetta Kälviäinen, Miikka Korja, Maria K. Lehtinen, Esa Mervaala, Michele Simonato, Annika Vaarmann

En accès libre Lafora disease (p.38-62)
Julie Turnbull, Erica Tiberia, Pasquale Striano, Pierre Genton, Stirling Carpenter, Cameron A. Ackerley, Berge A. Minassian

En accès libre SCARB2/LIMP2 deficiency in action myoclonus-renal failure syndrome (p.63-72)
Leanne Dibbens, Michael Schwake, Paul Saftig, Guido Rubboli

En accès libre Neuronal ceroid lipofuscinoses (p.73-88)
Dragos A. Nita, Sara E. Mole, Berge A. Minassian

En accès libre Sialidoses (p.89-93)
Silvana Franceschetti, Laura Canafoglia

En accès libre Myoclonus epilepsy in mitochondrial disorders (p.94-102)
Costanza Lamperti, Massimo Zeviani

En accès libre Progressive myoclonus epilepsy associated with neuroserpin inclusion bodies (neuroserpinosis) (p.103-10)
Benoit D. Roussel, David A. Lomas, Damian C. Crowther

En accès libre GOSR2: a progressive myoclonus epilepsy gene (p.111-4)
Leanne M. Dibbens, Guido Rubboli

En accès libre KCTD7-related progressive myoclonus epilepsy (p.115-9)
Patrick Van Bogaert

En accès libre Autosomal recessive progressive myoclonus epilepsy due to impaired ceramide synthesis (p.120-7)
Edoardo Ferlazzo, Pasquale Striano, Domenico Italiano, Tiziana Calarese, Sara Gasparini, Nicola Vanni, Floriana Fruscione, Pierre Genton, Federico Zara

En accès libre Spinal muscular atrophy associated with progressive myoclonus epilepsy (p.128-34)
Haluk Topaloglu, Judith Melki

En accès libre Myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK) is caused by heterozygous KCNC1 mutations (p.135-8)
Fábio A. Nascimento, Danielle M. Andrade

En accès libre Autosomal dominant cortical tremor, myoclonus and epilepsy (p.139-44)
Pasquale Striano, Federico Zara

En accès libre Myoclonus and seizures in progressive myoclonus epilepsies: pharmacology and therapeutic trials (p.145-53)
Roberto Michelucci, Elena Pasini, Patrizia Riguzzi, Eva Andermann, Reetta Kälviäinen, Pierre Genton

En accès libre Post-modern therapeutic approaches for progressive myoclonus epilepsy (p.154-8)
Berge A. Minassian