Results 61 to 70 of about 2,837 (201)

Clinical Vignette: A rare pericallosal lipoma presenting with Lennox–Gastaut syndrome and a remarkable response to valproic acid

Epileptic Disorders, EarlyView.
Rainier Mark Loidor L. Rapal, Hok Leong Chin, Douglas Nordli III   +2 more
wiley   +1 more source

Add‐on treatment with vinpocetine reduces seizure frequency and improves comorbidities in patients with loss‐of‐function γ‐aminobutyric acid type A receptor variants

Epilepsia, EarlyView.
Abstract Objective The semisynthetic compound vinpocetine has gained attention as a potential precision medicine for developmental and epileptic encephalopathies caused by loss‐of‐function (LoF) variants in γ‐aminobutyric acid type A (GABAA) receptor genes. As a positive allosteric modulator of GABAA receptors, case reports suggest that vinpocetine can
Cathrine E. Gjerulfsen, Vivian W. Y. Liao, Tomasz S. Mieszczanek, Anne V. Jakobsen, Elena Gardella, Kern Olofsson, Marina Nikanorova, Allan Bayat, Sebastian Ortiz, Sarah Weckhuysen, Cecilie Johannessen Landmark, Orrin Devinsky, Mary Chebib, Philip K. Ahring, Guido Rubboli, Rikke S. Møller   +15 more
wiley   +1 more source

Are comorbid sleep disorders associated with higher risk for sudden unexpected death in epilepsy? Observations from a Canadian epilepsy clinic

Epilepsia, EarlyView.
Abstract Objective Pooled mortality is nearly three times higher in people with epilepsy (PWE). Approximately 80% of sudden unexpected death in epilepsy (SUDEP) events occur during sleep, and primary sleep disorders are prevalent in the general population and PWE.
Marion Lazaj, Ellen Lee, Tristan Derry, Helen Driver, Gavin P. Winston, Lysa Boissé Lomax, Ana Johnson, Garima Shukla   +7 more
wiley   +1 more source

Lafora Disease in a Teenage Girl with Epilepsy

GAIMS Journal of Medical Sciences
Lafora disease is rare group of progressive myoclonic epilepsies, worldwide. It is more common in children and adolescents and is genetic, glycogen metabolism disorder. It has Autosomal recessive (AR) inheritance.
Bhushan Warpe, Shweta Joshi, Vishva Sureja   +2 more
doaj   +1 more source

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

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  

Familial adult myoclonic epilepsy: A new expansion repeats disorder

, 2019
Familial adult myoclonic epilepsy (FAME), also described with different acronyms (ADCME, BAFME, FEME, FCTE and others), is a high-penetrant autosomal dominant condition featuring cortical hand tremors, myoclonic jerks, and occasional/rare convulsive ...
Lagorio I., Striano P., Zara F., Striano S.   +3 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

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