Results 1 to 10 of about 2,837 (201)

The involvement of Purkinje cells in progressive myoclonic epilepsy: Focus on neuronal ceroid lipofuscinosis

Neurobiology of Disease, 2023
The progressive myoclonic epilepsies (PMEs) are a group of rare neurodegenerative diseases characterized by myoclonus, epileptic seizures, and progressive neurological deterioration with cerebellar involvement.
Sara Bernardi, Federica Gemignani, Maria Marchese   +2 more
doaj   +4 more sources

Late-onset myoclonic epilepsy in Down syndrome (LOMEDS): A spectrum of progressive myoclonic epilepsy — Case report

Annals of Indian Academy of Neurology, 2016
Cognitive decline and epilepsy are well recognized complication of Down syndrome (DS). Here, we intend to present a case of 28 year old male who presented with progressive mental regression, gait ataxia and myoclonic jerking especially on awakening in ...
Chandra Mohan Sharma, Rajendra Kumar Pandey, Banshi Lal Kumawat, Dinesh Khandelwal   +3 more
doaj   +2 more sources

Autosomal dominant Kufs disease in a Georgian adult woman: A case report [PDF]

Epilepsy & Behavior Reports
Progressive myoclonic epilepsies (PMEs) are a diverse group of neurodegenerative disorders characterized by myoclonus, seizures, and progressive cognitive and motor decline. This report presents a case of a subtype of PME, autosomal dominant Kufs disease
Nikoloz Papiashvili, Sopio Gagua, Nana Gonjilashvili, Natela Okujava, Aleksandre Tsereteli   +4 more
doaj   +2 more sources

Genetic insights into progressive myoclonic epilepsies: A case study of KCTD7 mutation in an Iranian-Azeri-Turkish family [PDF]

Epilepsy & Behavior Reports
Progressive Myoclonic Epilepsies (PMEs) are a rare and heterogeneous group of epileptic disorders often with progressive neurologic deterioration. The intensity of the clinical features varies depending on the underlying genetic etiology. This study aims
Haneieh Honarmand, Mortaza Bonyadi, Mohammad Barzegar   +2 more
doaj   +2 more sources

A survey of the European Reference Network EpiCARE on clinical practice for selected rare epilepsies [PDF]

Epilepsia Open, 2021
Objective Clinical care of rare and complex epilepsies is challenging, because evidence‐based treatment guidelines are scarce, the experience of many physicians is limited, and interdisciplinary treatment of comorbidities is required. The pathomechanisms
Tobias Baumgartner, Mar Carreño, Rodrigo Rocamora, Francesca Bisulli, Antonella Boni, Milan Brázdil, Ondrej Horak, Dana Craiu, Cristina Pereira, Renzo Guerrini, Victoria San Antonio‐Arce, Andreas Schulze‐Bonhage, Sameer M. Zuberi, Tove Hallböök, Reetta Kalviainen, Lieven Lagae, Sylvie Nguyen, Sofia Quintas, Ana Franco, J. Helen Cross, Matthew Walker, Alexis Arzimanoglou, Sylvain Rheims, Tiziana Granata, Laura Canafoglia, Cecilie Johannessen Landmark, Arjune Sen, Rohini Rattihalli, Rima Nabbout, Elena Tartara, Manuela Santos, Rui Rangel, Pavel Krsek, Petr Marusic, Nicola Specchio, Kees P. J. Braun, Patricia Smeyers, Vicente Villanueva, Katarzyna Kotulska, Rainer Surges   +39 more
doaj   +7 more sources

Myoclonus in Pediatric Metabolic Diseases: Clinical Spectrum, Mechanisms, and Treatable Causes—A Systematic Review [PDF]

Metabolites
Background: Myoclonus, a sudden brief shock-like involuntary movement, represents a common yet under-recognized manifestation across many inherited metabolic disorders.
Elżbieta Majewska, Zofia Zdort, Aleksandra Ochocka, Justyna Paprocka   +3 more
doaj   +2 more sources

Infantile-Onset Unverricht–Lundborg Disease: A Unique Case With Severe Neurological Impairment and Positive Family History [PDF]

Journal of Investigative Medicine High Impact Case Reports
Progressive myoclonus epilepsies (PMEs) are a group of genetic disorders marked by myoclonus, epilepsy, and progressive neurological decline. Unverricht–Lundborg disease (ULD) is among the more common forms, though prevalence varies.
Basel Zaben MD, Anas R. Tuqan MD, Oday Hammad MD, Roa Jweiles MD, Sarah Awad MD, Anas Mufeed Barabrah MD, Osama Atawneh MD, Sharehan Jo’beh MD   +7 more
doaj   +2 more sources

The Unverricht-Lundborg disease as a part of the progressive myoclonic epilepsies syndrome

Alʹmanah Kliničeskoj Mediciny, 2022
The progressive myoclonic epilepsies syndrome (PME) is a heterogeneous group of genetic disorders characterized by myoclonus, progressive motor and cognitive abnormalities, sensory and cerebellar symptoms, abnormal slowing of the basic bioelectrical ...
Elena D. Belousova
doaj   +1 more source

Progressive Myoclonic Epilepsy’-like presentation of Cerebrotendinous Xanthomatosis in an Indian Family with A Novel C.646+1G>A Splice Site Mutation

Epilepsy & Behavior Reports, 2021
Cerebrotendinous Xanthomatosis (CTX) is a rare autosomal-recessive inborn disorder of bile acid metabolism due to mutations in the CYP27A1 gene. It presents with a diverse range of neurological and non-neurological symptoms. We present a case of CTX with
Karan M. Desai, Piyush Kumar, Parthvi S. Ravat, Sangeeta H. Ravat, Neeraj Jain, Shruti Agrawal, Rahil Ansari   +6 more
doaj   +1 more source

PTG depletion removes Lafora bodies and rescues the fatal epilepsy of Lafora disease. [PDF]

PLoS Genetics, 2011
Lafora disease is the most common teenage-onset neurodegenerative disease, the main teenage-onset form of progressive myoclonus epilepsy (PME), and one of the severest epilepsies.
Julie Turnbull, Anna A DePaoli-Roach, Xiaochu Zhao, Miguel A Cortez, Nela Pencea, Erica Tiberia, Mark Piliguian, Peter J Roach, Peixiang Wang, Cameron A Ackerley, Berge A Minassian   +10 more
doaj   +1 more source