Results 31 to 40 of about 6,465 (257)

Classification of the Myoclonic Epilepsies [PDF]

Epilepsia, 2003
Summary:  The myoclonic epilepsies are a collection of syndromes in which myoclonic seizures are a prominent feature. Proper classification of a patient's syndrome is critical for appropriate treatment and prognosis. However, classification of such syndromes is often difficult because the terminology used to describe seizures can be confusing and ...
openaire   +2 more sources

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

Cognitive Function in Genetic Generalized Epilepsies: Insights From Neuropsychology and Neuroimaging

Frontiers in Neurology, 2020
Genetic generalized epilepsies (GGE), previously called idiopathic generalized epilepsies, constitute about 20% of all epilepsies, and include childhood absence epilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy, and epilepsy with ...
Corey Ratcliffe, Corey Ratcliffe, Britta Wandschneider, Britta Wandschneider, Sallie Baxendale, Sallie Baxendale, Pamela Thompson, Pamela Thompson, Matthias J. Koepp, Matthias J. Koepp, Lorenzo Caciagli, Lorenzo Caciagli, Lorenzo Caciagli   +12 more
doaj   +1 more source

Clinical and electroencephalographic features of children with eating-induced reflex epilepsy: A report of three cases [PDF]

精准医学杂志
Objective To investigate the clinical and electroencephalographic (EEG) features of children with eating-induced reflex epilepsy. Methods A retrospective analysis was performed for the clinical features, EEG findings, treatment, and prognosis of three ...
LIANG Jingjing, NIU Yue, CUI Ya'nan, QIN Jiong, YANG Zhixian
doaj   +1 more source

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang   +5 more
wiley   +1 more source

Juvenile Myoclonic Epilepsy Adventure: A Retrospective Study

Acta Neurologica Taiwanica
Background: Juvenile Myoclonic Epilepsy (JME) is one of the most common idiopathic generalized epilepsies, typically emerging during adolescence. Despite its characteristic clinical and EEG features, diagnosis may sometimes be delayed.
Arzu Eroğlu, Ahmet Sami Güven, Huseyin Caksen   +2 more
doaj   +1 more source

The relationship between the characteristics of burst suppression pattern and different etiologies in epilepsy

Scientific Reports, 2021
To analyze the relationship between the characteristics of burst suppression (BS) pattern and different etiologies in epilepsy. Patients with a BS pattern who were younger than 6 months old were screened from our electroencephalogram (EEG) database.
Haipo Yang, Pan Gong, Xianru Jiao, Qiujun Zhou, Yuehua Zhang, Yuwu Jiang, Zhixian Yang   +6 more
doaj   +1 more source

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier, Ugo Sorrentino, Matias Wagner, Marta Zawadzka, Anna Lemska, Maria Mazurkiewicz‐Bełdzińska, Michael Zech   +6 more
wiley   +1 more source

Topiramate for juvenile myoclonic epilepsy [PDF]

Cochrane Database of Systematic Reviews, 2019
Topiramate is a newer broad-spectrum antiepileptic drug (AED). Some studies have shown the benefits of topiramate in the treatment of juvenile myoclonic epilepsy (JME). However, there are no current systematic reviews to determine the efficacy and tolerability of topiramate in people with JME.
Jia, Liu, Lu-Ning, Wang, Yu-Ping, Wang
openaire   +3 more sources

Claustrum Involvement in New Onset Refractory Status Epilepticus: A Systematic Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The claustrum sign is a distinctive neuroimaging finding characterized by bilateral T2/FLAIR hyperintensity of the claustrum, one of the most interconnected regions of the human brain. It was first described in new‐onset refractory status epilepticus (NORSE) and febrile infection–related epilepsy syndrome (FIRES).
Margherita Burani, Lorenzo Muccioli, Giada Giovannini, Niccolò Orlandi, Francesca Bisulli, Stefano Meletti   +5 more
wiley   +1 more source