Results 71 to 80 of about 2,837 (201)

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

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Myoclonic Seizures and syndromes in infants and children [PDF]

, 2006
Definitions and Diagnosis of Myoclonus Myoclonus (from the Greek myo, “muscle”, and klonus “agitation/violent contraction”) has been defined as a “sudden, involuntary, brief, shock-like muscle contraction arising from the central nervous system” (CNS ...
Baram, Tallie Z
core  

Absence seizures: Update on signaling mechanisms and networks

Epilepsia Open, EarlyView.
Abstract Absence seizures (AS) are a hallmark of genetic generalized epilepsies (GGE), characterized by brief episodes of impaired consciousness accompanied by electroencephalographic spike‐and‐wave discharges (SWDs). Traditionally attributed to cortico‐thalamo‐cortical (CTC) dysrhythmia, emerging evidence suggests a more intricate pathophysiological ...
Ozlem Akman, Filiz Onat
wiley   +1 more source

North Sea Progressive Myoclonus Epilepsy is Exacerbated by Heat, A Phenotype Primarily Associated with Affected Glia [PDF]

, 2019
Progressive myoclonic epilepsies (PMEs) comprise a group of rare disorders of different genetic aetiologies, leading to childhood-onset myoclonus, myoclonic seizures and subsequent neurological decline.
Hernandez-Pichardo, Alejandra, Gorter, Jenke A; id_orcid, Lambrechts, Roald A, Grzeschik, Nicola A, Sibon, Ody C M, de Koning, Tom J, Gorter, Jenke A, de Koning-Tijssen, Marina A J, Sibon, Ody C M; id_orcid, Polet, Sjoukje S, van Ninhuys, Lisa   +10 more
core   +1 more source

Individual lipid alterations at the origin of neuronal Ceramide Synthase defects.

PLoS Genetics
The brain is highly susceptible to disturbances in lipid metabolism. Among the rare, genetically-linked epilepsies Progressive Myoclonic Epilepsy Type 8 (PME8), associated with the loss of Ceramide Synthase (CerS) activity, causes epileptic symptoms ...
Anna B Ziegler, Cedrik Wesselmann, Konstantin Beckschäfer, Anna-Lena Wulf, Neena Dhiman, Peter Soba, Christoph Thiele, Reinhard Bauer, Gaia Tavosanis   +8 more
doaj   +1 more source

Ketogenic diet for infantile epileptic spasms

Epilepsia Open, EarlyView.
Abstract Approximately half of all cases of Infantile Epileptic Spasms Syndrome (IESS) do not respond to vigabatrin and hormonal therapies. There is no clear consensus as to the second‐line therapy for IESS. Ketogenic diet (KD) has emerged as an effective treatment for certain drug‐resistant epilepsies and in many cases of IESS.
Morris H. Scantlebury, Anamika Choudhary, Andy Cheuk‐Him Ng, Cezar Gavrilovici   +3 more
wiley   +1 more source

Real‐world‐data for phenotypes and genotypes of rare monogenic genetic epilepsies and genes of uncertain significance for epilepsy

Epilepsia Open, EarlyView.
Abstract Objectives The objectives of this study were to develop a real‐world‐data (RWD) database for patients with epilepsy to provide further real‐world‐evidence (RWE) for monogenic genetic epilepsies; to assess the usefulness of a diagnostic algorithm in epilepsy; and to examine protein 3D structures using in silico tools to predict variant ...
Haley Morris, Elizabeth Mathew, Shalini Bahl, Marta Villa‐Lopez, Saadet Mercimek‐Andrews   +4 more
wiley   +1 more source

Progressive myoclonus epilepsy in Down syndrome with Alzheimer's disease: An 11‐year longitudinal study and proposed diagnostic red flags

Epilepsia Open, EarlyView.
Abstract Objective Individuals with Down syndrome (DS) face an ultra‐high risk of Alzheimer's disease (AD). Within this continuum, Progressive Myoclonus Epilepsy (PME) has emerged as a marker of advanced neurodegeneration. Building on our 2014 characterization of this syndrome, we aimed to define its long‐term natural history and pathological substrate.
Giuseppe d'Orsi, Ezio Calò, Maria Teresa Di Claudio, Carmela Pia Ferro, Umberto Costantino, Elio Perrone, Raffaela Rita Latino   +6 more
wiley   +1 more source

Adult-onset autosomal dominant myoclonic epilepsy: Report of a family with an overlooked epileptic syndrome

, 2006
SummaryObjectiveMyoclonic epilepsy is a common epileptic syndrome with high genetic contribution. We described a pedigree in which 10 individuals presented with a non-progressive, adult-onset myoclonic epilepsy.Materials and methodsThe pedigree was ...
Hsin, Yue-Loong, Chen, Yen-Ho, Chuang, Min-Fei, Min-Fei Chuang, Shyu, Woei-Cherng, Harnod, Tomor, Chih-Yuan Lin, Yue-Loong Hsin, Lin, Chih-Yuan, Yen-Ho Chen, Woei-Cherng Shyu, Tomor Harnod   +11 more
core   +1 more source