Results 61 to 70 of about 845 (152)

Loss of laforin or malin results in increased Drp1 level and concomitant mitochondrial fragmentation in Lafora disease mouse models

Neurobiology of Disease, 2017
Lafora disease (LD) is an autosomal recessive form of a fatal disorder characterized by the myoclonus epilepsy, ataxia, psychosis, dementia, and dysarthria.
Mamta Upadhyay, Saloni Agarwal, Pratibha Bhadauriya, Subramaniam Ganesh   +3 more
doaj   +1 more source

Seminars in epileptology: How to diagnose status epilepticus in adults and children

Epileptic Disorders, Volume 27, Issue 4, Page 530-549, August 2025.
Abstract Status epilepticus (SE) can be regarded as the most severe expression of seizure activity characterized by a low probability of spontaneous cessation and mechanisms leading to metabolic and inflammatory derangements with increased risk of brain damage, alterations of neural networks, and potentially life‐threatening systemic complications ...
M. Leitinger, P. Bosque‐Varela, G. Kuchukhidze, U. Leitner, J. Höfler, G. Kalss, F. Rossini, G. Pilz, H. Novak, M. Mauritz, K. Poppert, A. Toma, E. Trinka   +12 more
wiley   +1 more source

Glycogen synthase GYS1 overactivation contributes to glycogen insolubility and malto-oligoglucan-associated neurodegenerative disease

The EMBO Journal
Polyglucosans are glycogen molecules with overlong chains, which are hyperphosphorylated in the neurodegenerative Lafora disease (LD). Brain polyglucosan bodies (PBs) cause fatal neurodegenerative diseases including Lafora disease and adult polyglucosan ...
Silvia Nitschke, Alina P Montalbano, Megan E Whiting, Brandon H Smith, Neije Mukherjee-Roy, Charlotte R Marchioni, Mitchell A Sullivan, Xiaochu Zhao, Peixiang Wang, Howard Mount, Mayank Verma, Berge A Minassian, Felix Nitschke   +12 more
doaj   +1 more source

The cerebellum in epilepsy

Epilepsia, Volume 66, Issue 6, Page 1773-1792, June 2025.
Abstract The cerebellum, a subcortical structure, is traditionally linked to sensorimotor integration and coordination, although its role in cognition and affective behavior, as well as epilepsy, is increasingly recognized. Cerebellar dysfunction in patients with epilepsy can result from genetic disorders, antiseizure medications, seizures, and seizure‐
Christopher Elder, Rebecca Kerestes, Puneet Opal, Maria Marchese, Orrin Devinsky   +4 more
wiley   +1 more source

ePoster

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +2 more sources

Neural Metabolic Networks: Key Elements of Healthy Brain Function

Journal of Neurochemistry, Volume 169, Issue 6, June 2025.
This review originated from the Fourth International Society for Neurochemistry (ISN) and Journal of Neurochemistry (JNC) Flagship School (2022). Here, we describe how the specific bioenergetic profiles and metabolic exchanges between brain cells enable and gate synaptic function and behavior. Then, based on this analysis, we discuss the potential role
Nimrod Madrer, Nirma D. Perera, Nonthué A. Uccelli, Alice Abbondanza, Jens V. Andersen, Emma Veronica Carsana, Matthew D. Demmings, Regina F. Fernandez, Matheus Garcia de Fragas, Ismail Gbadamosi, Divita Kulshrestha, Ricardo A. S. Lima‐Filho, Oana C. Marian, Kia H. Markussen, Andrew J. McGovern, Elliott S. Neal, Sukanya Sarkar, Eva Šimončičová, Jazmín Soto‐Verdugo, Sozerko Yandiev, Ignacio Fernández‐Moncada   +20 more
wiley   +1 more source

Persistent accumulation of unrepaired DNA damage in rat cortical neurons: nuclear organization and ChIP-seq analysis of damaged DNA

Acta Neuropathologica Communications, 2018
Neurons are highly vulnerable to DNA damage induced by genotoxic agents such as topoisomerase activity, oxidative stress, ionizing radiation (IR) and chemotherapeutic drugs.
Jorge Mata-Garrido, Olga Tapia, Iñigo Casafont, Maria T. Berciano, Ana Cuadrado, Miguel Lafarga   +5 more
doaj   +1 more source

Genetics of Lafora progressive myoclonic epilepsy: current perspectives

The Application of Clinical Genetics, 2016
Miljana Kecmanović,1 Milica Keckarević-Marković,1 Dušan Keckarević,1 Galina Stevanović,2 Nebojša Jović,2 Stanka Romac,1,† 1Faculty of Biology, Center for Human Molecular Genetics, 2Clinic of Neurology and Psychiatry for Children and ...
Kecmanović M, Keckarević-Marković M, Keckarević D, Stevanović G, Jović N, Romac S   +5 more
doaj  

Everolimus does not prevent Lafora body formation in murine Lafora disease [PDF]

Neurology Genetics, 2017
Mishra, Navin, Wang, Peixiang, Goldsmith, Danielle, Zhao, Xiaochu, Xue, Yunlin, Christians, Uwe, Minassian, Berge A.   +6 more
openaire   +2 more sources

Epilepsia mioclônica progressiva: aspectos clínicos, poligráficos e histopatológicos de um caso Progressive myoclonic epilepsy: clinical, polygraphic and histopathological aspects. A case report

Arquivos de Neuro-Psiquiatria, 1973
É relatado um caso caracterizado clinicamente por crises mioclônicas, crises convulsivas do tipo grande mal e rebaixamento mental progressivo. O estudo histo-patológico revelou a presença de corpúsculos intracitoplasmáticos no sistema nervoso central ...
Wilson Luiz Sanvito, Reynaldo André Brandt, Djalmas Miguel Gonzales, Charles Peter Tilbery, Jeronimo Stecca   +4 more
doaj