Results 51 to 60 of about 8,275 (187)

IDENTIFICATION OF DISEASE GENES FOR RARE AUTOSOMAL RECESSIVE EPILEPTIC SYNDROMES BY HOMOZYGOSITY MAPPING

, 2011
Introduction: The genetics of the most common neurological disorders, including epilepsy, with mendelian inheritance has been dissected in the last twenty years. However the genetic etiology of some rare epileptic conditions is still unknown.
Coppola, Antonietta
core  

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Lipid‐based Nano‐delivery systems as a promising strategy for the treatment of epilepsy: Current status and challenges

Epilepsia Open, EarlyView.
Abstract Objective Epilepsy is a prevalent chronic neurological disorder characterized by abnormal neuronal electrical activity. The primary treatment modality for individuals with epilepsy (PWE) is antiseizure medication (ASM). The multiple potential factors contributing to treatment resistance in epilepsy may be attributed to the inability of ASMs to
Priya Kannan Varshini, Arunachalam Divya, Kumar Sowndharya, Parthiban Jeevitha, Selvam Manoj, Ashiq Rahman, Athil Ahamed, Ravichandiran Abirahul, Paranthaman Subash, Sulekha Khute   +9 more
wiley   +1 more source

Mutation in the mitochondrial tRNAIle gene causes progressive myoclonus epilepsy

, 2013
PurposeThe group of the rare progressive myoclonic epilepsies (PME) include a wide spectrum of mitochondrial and metabolic diseases. In juvenile and adult ages, MERRF (myoclonic epilepsy with ragged red fibres) is the most common form.
Weber, Yvonne G., Kunz, Wolfram S., Becker, Felicitas, Lerche, Holger, Zsurka, Gábor, Heinen, Markus, Gdynia, Hans-Jürgen   +6 more
core   +1 more source

Epilepsy syndromes classification

Epilepsia Open, EarlyView.
Abstract Epilepsy syndromes are distinct electroclinical entities which have been recently defined by the International League Against Epilepsy Nosology and Definitions Task Force. Each syndrome is associated with “a characteristic cluster of clinical and EEG features, often supported by specific etiologic findings”.
Elaine C. Wirrell, Nicola Specchio, Rima Nabbout, Phillip L. Pearl, Kate Riney   +4 more
wiley   +1 more source

Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1

, 2015
To present the clinical features and the results of laboratory investigations in three patients with spinal muscular atrophy associated with progressive myoclonic epilepsy (SMA-PME), a rare condition caused by mutations in the N-acylsphingosine ...
G. Gobbi, R. Michelucci, A. D’Amico, CANTALUPO, Gaetano, D'Amico, Adele, F. D. Tiziano, E. Abiusi, P. Veggiotti, F. Darra, Berardinelli, Angela, Pasini, Elena, E. Piazza, G. Rubboli, A. Pini, Abiusi, Emanuela, G. Cantalupo, Gobbi, Giuseppe, E. Bertini, E. Pasini, Michelucci, Roberto, Veggiotti, Pierangelo, Bertini, Enrico, Fiori, Stefania, Rubboli, Guido, Pini, Antonella, Piazza, Elena, S. Fiori, A. Berardinelli, Tiziano, Francesco Danilo, DARRA, Francesca   +29 more
core   +1 more source

Intestinal microbiome alterations in pediatric epilepsy: Implications for seizures and therapeutic approaches

Epilepsia Open, EarlyView.
Abstract The intestinal microbiome plays a pivotal role in maintaining host health through its involvement in gastrointestinal, immune, and central nervous system (CNS) functions. Recent evidence underscores the bidirectional communication between the microbiota, the gut, and the brain and the impact of this axis on neurological diseases, including ...
Teresa Ravizza, Greta Volpedo, Antonella Riva, Pasquale Striano, Annamaria Vezzani   +4 more
wiley   +1 more source

Focus on progressive myoclonic epilepsy in Berardinelli-Seip syndrome

, 2020
Introduction: Berardinelli-Seip syndrome or congenital generalized lipodystrophy type 2 is a rare genetic disorder characterized by selective loss of subcutaneous adipose tissue associated with peripheral insulin resistance and its complications ...
Galluzzi, P., Renieri, A., Ferranti, S., Lo Rizzo, C., Grosso, S.   +4 more
core   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Young-onset Alzheimer’s dementia mimicking progressive myoclonic epilepsy spectrum

, 2023
Background Young-onset Alzheimer’s dementia (YOAD) refers to the onset of disease before the age of 40 years. Classical AD typically presents with memory impairment with involvement of other cognitive domains like language, visuospatial orientation.
Rohan Mahale, Gautam Arunachal, Hansashree Padmanabha, Debayan Dutta, N. Venkatachalam   +4 more
core   +1 more source