Works matching DE "MYOCLONUS"

Results: 1566

The history of progressive myoclonus epilepsies.

Published in:

Epileptic Disorders, 2016, v. 18, p. S3, doi. 10.1684/epd.2016.0834

By:

Genton, Pierre;
Striano, Pasquale;
Minassian, Berge A.

Publication type:

Article

Neurophysiology of myoclonus and progressive myoclonus epilepsies.

Published in:

Epileptic Disorders, 2016, v. 18, p. S11, doi. 10.1684/epd.2016.0835

By:

Avanzini, Giuliano;
Shibasaki, Hiroshi;
Rubboli, Guido;
Canafoglia, Laura;
Panzica, Ferruccio;
Franceschetti, Silvana;
Hallett, Mark

Publication type:

Article

Unverricht-Lundborg disease.

Published in:

Epileptic Disorders, 2016, v. 18, p. S28, doi. 10.1684/epd.2016.0841

By:

Crespel, Arielle;
Ferlazzo, Edoardo;
Franceschetti, Silvana;
Genton, Pierre;
Gouider, Riadh;
Kälviäinen, Reetta;
Korja, Miikka;
Lehtinen, Maria K.;
Mervaala, Esa;
Simonato, Michele;
Vaarmann, Annika

Publication type:

Article

Lafora disease.

Published in:

Epileptic Disorders, 2016, v. 18, p. S38, doi. 10.1684/epd.2016.0842

By:

Turnbull, Julie;
Tiberia, Erica;
Striano, Pasquale;
Genton, Pierre;
Carpenter, Stirling;
Ackerley, Cameron A.;
Minassian, Berge A.

Publication type:

Article

SCARB2/LIMP2 deficiency in action myoclonus-renal failure syndrome.

Published in:

Epileptic Disorders, 2016, v. 18, p. S63, doi. 10.1684/epd.2016.0843

By:

Dibbens, Leanne;
Schwake, Michael;
Saftig, Paul;
Rubboli, Guido

Publication type:

Article

Myoclonus epilepsy in mitochondrial disorders.

Published in:

Epileptic Disorders, 2016, v. 18, p. S94, doi. 10.1684/epd.2016.0846

By:

Lamperti, Costanza;
Zeviani, Massimo

Publication type:

Article

Myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK) is caused by heterozygous KCNC1 mutations.

Published in:

Epileptic Disorders, 2016, v. 18, p. S135, doi. 10.1684/epd.2016.0859

By:

Nascimento, Fábio A.;
Andrade, Danielle M.

Publication type:

Article

GOSR2: a progressive myoclonus epilepsy gene.

Published in:

Epileptic Disorders, 2016, v. 18, p. S111, doi. 10.1684/epd.2016.0848

By:

Dibbens, Leanne M.;
Rubboli, Guido

Publication type:

Article

KCTD7-related progressive myoclonus epilepsy.

Published in:

Epileptic Disorders, 2016, v. 18, p. S115, doi. 10.1684/epd.2016.0856

By:

Van Bogaert, Patrick

Publication type:

Article

Autosomal recessive progressive myoclonus epilepsy due to impaired ceramide synthesis.

Published in:

Epileptic Disorders, 2016, v. 18, p. S120, doi. 10.1684/epd.2016.0857

By:

Ferlazzo, Edoardo;
Striano, Pasquale;
Italiano, Domenico;
Calarese, Tiziana;
Gasparini, Sara;
Vanni, Nicola;
Fruscione, Floriana;
Genton, Pierre;
Zara, Federico

Publication type:

Article

Spinal muscular atrophy associated with progressive myoclonus epilepsy.

Published in:

Epileptic Disorders, 2016, v. 18, p. S128, doi. 10.1684/epd.2016.0858

By:

Topaloglu, Haluk;
Melki, Judith

Publication type:

Article

Progressive myoclonus epilepsy associated with neuroserpin inclusion bodies (neuroserpinosis).

Published in:

Epileptic Disorders, 2016, v. 18, p. S103, doi. 10.1684/epd.2016.0847

By:

Roussel, Benoit D.;
Lomas, David A.;
Crowther, Damian C.

Publication type:

Article

Autosomal dominant cortical tremor, myoclonus and epilepsy.

Published in:

Epileptic Disorders, 2016, v. 18, p. S139, doi. 10.1684/epd.2016.0860

By:

Striano, Pasquale;
Zara, Federico

Publication type:

Article

Myoclonus and seizures in progressive myoclonus epilepsies: pharmacology and therapeutic trials.

Published in:

Epileptic Disorders, 2016, v. 18, p. S145, doi. 10.1684/epd.2016.0861

By:

Michelucci, Roberto;
Pasini, Elena;
Riguzzi, Patrizia;
Andermann, Eva;
Kälviäinen, Reetta;
Genton, Pierre

Publication type:

Article

Post-modern therapeutic approaches for progressive myoclonus epilepsy.

Published in:

Epileptic Disorders, 2016, v. 18, p. S154, doi. 10.1684/epd.2016.0862

By:

Minassian, Berge A.

Publication type:

Article

Progressive Myoclonus Epilepsy: The Gene-Empowered Era.

Published in:

Epileptic Disorders, 2016, v. 18, p. S1, doi. 10.1684/epd.2016.0864

By:

Minassian, Berge A.;
Striano, Pasquale;
Avanzini, Giuliano

Publication type:

Article

Successful seizure control with cenobamate in juvenile myoclonic epilepsy.

Published in:

Epileptic Disorders, 2025, v. 27, n. 2, p. 307, doi. 10.1002/epd2.20339

By:

Tényi, Dalma;
Horváth, Réka;
Janszky, József

Publication type:

Article

Myoclonic reflex and non‐reflex seizures in a female child with Coffin–Lowry syndrome: Clinical vignette.

Published in:

Epileptic Disorders, 2025, v. 27, n. 2, p. 299, doi. 10.1002/epd2.20335

By:

Pantani, Agnese;
Rizzi, Susanna;
Spagnoli, Carlotta;
Cesaroni, Carlo Alberto;
Cavalli, Anna;
Caraffi, Stefano Giuseppe;
Peruzzi, Adelaide;
Peluso, Francesca;
Russo, Roberta;
Scala, Iris;
Zuntini, Roberta;
Garavelli, Livia;
Frattini, Daniele;
Fusco, Carlo

Publication type:

Article

ILAE neonatal seizure framework to aide in determining etiology.

Published in:

Epileptic Disorders, 2025, v. 27, n. 1, p. 64, doi. 10.1002/epd2.20312

By:

Yozawitz, Elissa G.;
Cilio, Maria Roberta;
Mizrahi, Eli M.;
Moon, Jee‐Young;
Moshé, Solomon L.;
Nunes, Magda L.;
Plouin, Perrine;
Zuberi, Sameer;
Pressler, Ronit M.

Publication type:

Article

A unique case of tactile‐induced reflex myoclonic epilepsy of infancy evolving into childhood absence epilepsy.

Published in:

Epileptic Disorders, 2025, v. 27, n. 1, p. 103, doi. 10.1002/epd2.20301

By:

Rodgers, Jeffrey;
Bhatia, Sonal

Publication type:

Article

Eye closure‐induced seizures in Gaucher disease and progressive myoclonus epilepsy.

Published in:

Epileptic Disorders, 2024, v. 26, n. 6, p. 895, doi. 10.1002/epd2.20274

By:

Serrão, Catarina;
Aldomiro, Alexandre;
Parreira, Sara;
Franco, Ana;
Guedes, Leonor Correia;
Bentes, Carla;
Peralta, Ana Rita

Publication type:

Article

An interview with Elissa Yozawitz, the 2024 Epileptic Disorders Prize winner.

Published in:

Epileptic Disorders, 2024, v. 26, n. 5, p. 730, doi. 10.1002/epd2.20262

By:

Beniczky, Sándor

Publication type:

Article

Dancing sugar! A case of epilepsia partialis continua and subsequent belly dancing syndrome in a patient with a hyperosmolar hyperglycemic state.

Published in:

Epileptic Disorders, 2024, v. 26, n. 4, p. 544, doi. 10.1002/epd2.20241

By:

Liviello, Davide;
Cipollone, Sara;
Corniello, Clarissa;
Evangelista, Giacomo;
Marzetti, Laura;
Russo, Mirella;
Onofrj, Marco;
Dono, Fedele;
Sensi, Stefano

Publication type:

Article

Soft cerebellar signs unveil RARS2‐related epilepsy.

Published in:

Epileptic Disorders, 2024, v. 26, n. 4, p. 540, doi. 10.1002/epd2.20237

By:

Yahya, Vidal;
Dilena, Robertino;
Del Bo, Roberto;
Magni, Manuela;
Biella, Fabio;
Salani, Sabrina;
Fortunato, Francesco;
Scola, Elisa;
Di Fonzo, Alessio;
Monfrini, Edoardo

Publication type:

Article

Seizure provocation in EEG recordings: A data‐driven approach.

Published in:

Epileptic Disorders, 2024, v. 26, n. 3, p. 322, doi. 10.1002/epd2.20217

By:

Larsen, Pirgit Meritam;
Wüstenhagen, Stephan;
Terney, Daniella;
Gardella, Elena;
Aurlien, Harald;
Beniczky, Sándor

Publication type:

Article

Wernekink commissure syndrome as the presenting feature in multiple sclerosis.

Published in:

Nepal Journal of Neuroscience, 2024, v. 21, n. 4, p. 43, doi. 10.3126/njn.v21i4.49703

By:

Sasikumar, Sheetal;
T. J., Jeethu;
Shaji, Chris Alvis;
Sasidharan, Aswathy

Publication type:

Article

Jaw-Opening Myoclonus: A Rare and Distinctive Sign in Subacute Sclerosing Panencephalitis.

Published in:

2025

By:

Madduluri, Bhavani;
Turaga, Suryaprabha;
Harika, Yenni;
Naaz, Sabeeha;
Arun, S

Publication type:

Letter

Acute hand dystonia and action myoclonus unveiling diabetic striatopathy: The critical role of hyperglycemia.

Published in:

Journal of the Royal College of Physicians of Edinburgh, 2025, v. 55, n. 2, p. 98, doi. 10.1177/14782715251332317

By:

Chatterjee, Subhankar;
Ghosh, Ritwik;
Das, Shambaditya;
Sengupta, Samya;
Mukherjee, Debaleena;
Pandit, Alak;
Bhattacharjee, Rana;
Benito-León, Julián;
Dubey, Souvik

Publication type:

Article

Case report of Lafora disease: a rare genetic disorder manifesting as progressive myoclonic epilepsy.

Published in:

BMC Neurology, 2025, v. 25, n. 1, p. 1, doi. 10.1186/s12883-025-04253-x

By:

Naderian, Ramtin;
Vafaeian, Farzane;
Hoseini, Seyyed Mohamad;
Sanami, Samira

Publication type:

Article

Is adjunctive perampanel beneficial for Lafora disease?

Published in:

Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2020, v. 77, n. 5, p. 539, doi. 10.2298/VSP170416013S

By:

Stevanović, Galina;
Jović, Nebojša;
Kecmanović, Miljana

Publication type:

Article

Diaphragmatic Myoclonus Effectively Treated with Lacosamide: A Very Rare Phenomenon of Belly Dancer Syndrome.

Published in:

Neurology India, 2025, v. 73, n. 1, p. 149, doi. 10.4103/neurol-india.Neurol-India-D-23-00458

By:

Manorenj, Sandhya;
Naaz, Bushra;
Madhavan, Manju

Publication type:

Article

Very Early Onset Familial Alzheimer's Disease Due to Mutation in PSEN1 I143T - First Case Report from South Asia.

Published in:

Neurology India, 2024, v. 72, n. 3, p. 652, doi. 10.4103/neurol-india.Neurol-India-D-24-00315

By:

Anandan, Somarajan;
Rajendran, Sajeesh S.;
Kumar, Jyothish P.;
Shajee, Divine S.

Publication type:

Article

Myoclonus is Mostly Painless but can be Induced by Valproic Acid.

Published in:

Neurology India, 2023, v. 71, n. 6, p. 1313, doi. 10.4103/0028-3886.391375

By:

Finsterer, Josef

Publication type:

Article

Posthypoxic Segmental Spinal "Flutter"-Like Myoclonus.

Published in:

2022

By:

Maramattom, Boby V.

Publication type:

Letter

A Case of Palatal Myoclonus.

Published in:

2022

By:

Bheemarao, Pranesh M.;
Mohan, Venkatesan Raj;
Siby, Ebin

Publication type:

Case Study

Lance-Adams Syndrome after Cardiac Arrest.

Published in:

2022

By:

Gudivada, Kiran;
Roy, Cherian;
K. Varma, Manu;
Gudivada, Kiran K;
K Varma, Manu M

Publication type:

Journal Article

Acute Stroke Presenting as Isolated Orthostatic Negative Myoclonus.

Published in:

2020

By:

Holla, Vikram;
Pene, Shailesh;
Kumar, Naveen;
Holla, Vikram V;
Pene, Shailesh Shivraj

Publication type:

Letter

Novel genotype-electroclinical phenotype correlations in sporadic early-onset childhood myoclonic-atonic epilepsy.

Published in:

2019

By:

Babu, Suresh;
Menon, Ramshekhar;
Asranna, Ajay;
Nampoothiri, Sheela;
Radhakrishnan, Ashalatha;
Cherian, Ajith;
Thomas, Sanjeev;
Babu, Suresh P;
Menon, Ramshekhar N;
Thomas, Sanjeev V

Publication type:

Case Study

Neuromuscular abnormalities in serotonin syndrome may be mistaken as seizure: A report and literature review.

Published in:

2019

By:

Prakash, Sanjay;
Adroja, Bansi;
Rathore, Chaturbhuj

Publication type:

journal article

Opsoclonus myoclonus ataxia syndrome.

Published in:

2018

By:

Khadilkar, Satish;
Benny, Rajesh

Publication type:

journal article

Pediatric movement disorders.

Published in:

2018

By:

Badheka, Rahul;
Barad, Narendra;
Sankhla, Charulata;
Barad, Narendra Kumar;
Sankhla, Charulata Savant

Publication type:

journal article

DNA deamination enables direct PCR amplification of the cystatin B (CSTB) gene-associated dodecamer repeat expansion in myoclonus epilepsy type Unverricht-Lundborg(Communicated by Jean-Louis Mandel).

Published in:

Human Mutation, 2003, v. 22, n. 5, p. 404, doi. 10.1002/humu.10276

By:

Andreas Weinhaeusel;
Michael A. Morris;
Stylianos E. Antonarakis;
Oskar A. Haas

Publication type:

Article

De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy(Communicated by Jacques S. Beckmann).

Published in:

Human Mutation, 2003, v. 21, n. 6, p. 615, doi. 10.1002/humu.10217

By:

Lieve Claes;
Berten Ceulemans;
Dominique Audenaert;
Katrien Smets;
Ann Löfgren;
Jurgen Del-Favero;
Sirpa Ala-Mello;
Lina Basel-Vanagaite;
Barbara Plecko;
Salmo Raskin;
Paul Thiry;
Nicole I. Wolf;
Christine Van Broeckhoven

Publication type:

Article

The intermuscular 3–7 Hz drive is not affected by distal proprioceptive input in myoclonus-dystonia.

Published in:

Experimental Brain Research, 2010, v. 202, n. 3, p. 681, doi. 10.1007/s00221-010-2174-x

By:

van der Meer, J. N.;
Schouten, A. C.;
Bour, L. J.;
de Vlugt, E.;
van Rootselaar, A. F.;
van der Helm, F. C. T.;
Tijssen, M. A. J.

Publication type:

Article

Substantial Improvement in a Patient with Subacute Sclerosing Panencephalitis: An Unusual Case Report.

Published in:

2024

By:

Jain, Sneh;
Pandey, Shweta;
Garg, Ravindra Kumar;
Batra, Swansu Suresh Kumar

Publication type:

Case Study

Spinal Segmental Myoclonus in Primary Progressive Multiple Sclerosis.

Published in:

Tremor & Other Hyperkinetic Movements, 2024, v. 14, n. 1, p. 1, doi. 10.5334/tohm.862

By:

Ruiz-Ortiz, Mariano;
Benito-León, Julián

Publication type:

Article

Spectrum and Pattern of Movement Disorders in Patients with Sporadic Creutzfeldt-Jakob Disease.

Published in:

Tremor & Other Hyperkinetic Movements, 2023, v. 13, p. 1, doi. 10.5334/tohm.753

By:

Gurram, Sandeep;
Holla, Vikram V.;
Sharma, Praveen;
Kamble, Nitish;
Saini, Jitender;
Netravathi, Manjunath;
Yadav, Ravi;
Pal, Pramod Kumar

Publication type:

Article

Clinical and Electrophysiological Characterization of Essential Tremor in 18 Children and Adolescents.

Published in:

Tremor & Other Hyperkinetic Movements, 2023, v. 13, p. 1, doi. 10.5334/tohm.803

By:

Piarroux, Julie;
Dimopoulou, Evgenia;
Taieb, Guillaume;
Souvannanorath, Sarah;
Roze, Emmanuel;
Lion-François, Laurence;
Spitz, Marie-Aude;
Broussolle, Emmanuel;
Laurencin, Chloé;
Chanson, Jean-Baptiste;
Belleville-Goffeney, Johanna;
François-Heude, Marie Céline;
Meyer, Pierre;
Khalil, Mirna;
Dereure, Maelle;
Doummar, Diane;
Chevassus, Hugues;
Apartis, Emmanuelle;
Roubertie, Agathe

Publication type:

Article

Expanding the Spectrum of Diabetic Striatopathy: Insights from a Case of Hyperglycemia-Induced Propriospinal Myoclonus.

Published in:

2023

By:

Mukherjee, Debaleena;
Chatterjee, Subhankar;
Sarkar, Peyalee;
Ghosh, Ritwik;
Das, Shambaditya;
Ray, Biman Kanti;
Pandit, Alak;
Benito-León, Julián;
Dubey, Souvik

Publication type:

Case Study

Electrophysiology in Functional Movement Disorders: An Update.

Published in:

Tremor & Other Hyperkinetic Movements, 2023, v. 13, p. 1, doi. 10.5334/tohm.793

By:

Kamble, Nitish;
Pal, Pramod Kumar

Publication type:

Article