Results 171 to 180 of about 8,257 (246)

Integrated analysis of proteomics and metabolomics in infantile epileptic spasms syndrome. [PDF]

Sci Rep
Chen J, Wang X, Rao X, Luo H, Shen Y, Gan J.   +5 more
europepmc   +1 more source

Harnessing Repurposed Drugs to Enhance Temozolomide Efficacy in Glioblastoma

Cancer Reports, Volume 9, Issue 8, August 2026.
ABSTRACT Background Glioblastoma (GB) is the most aggressive primary malignant brain tumor in adults and remains associated with poor survival despite surgical resection followed by radiotherapy and temozolomide (TMZ) chemotherapy. Intrinsic and acquired resistance to TMZ, including MGMT‐dependent DNA repair and activation of pro‐survival pathways ...
Ali Nakhaei, Atefeh Taghavi, Amir R. Afshari, Farzaneh Davoudi, Elaheh Gheybi, Mohammad Jalili‐Nik   +5 more
wiley   +1 more source

Epileptic spasms and RNA analysis in a new case of Kabuki syndrome type 2. [PDF]

Epilepsia
Privitera F, Meossi C, Santorelli FM, Bartolini E.   +3 more
europepmc   +1 more source

Genotypic and Phenotypic Profile of 50 Cases With Chromatin Remodeling Complexes‐Related Neurological Disorders

CNS Neuroscience &Therapeutics, Volume 32, Issue 8, August 2026.
CRC‐related neurological disorders are mainly caused by variants in the CHD and BAF complex. The predominant phenotypes of CRC‐related neurological disorders were GDD/ID and epilepsy. Variants in the CHD and BAF complexes have different phenotypes.
Shimeng Chen, Fei Yin, Fang He, Ciliu Zhang, Xiaolu Deng, Lifen Yang, Li Yang, Chen Chen, Fangyun Liu, Jing Peng   +9 more
wiley   +1 more source

Role of the Ketogenic Diet Therapy and ACTH as Second Treatments in Drug-Resistant Infantile Epileptic Spasms Syndrome. [PDF]

Nutrients
Dressler A, Bonfanti L, Trimmel-Schwahofer P, Porsche B, Bertoli S, Male C.   +5 more
europepmc   +1 more source

Unveiling sleep disturbances in KCNB1‐related disorders: Insights from a cohort of 78 individuals

Epilepsia Open, Volume 11, Issue 4, Page 1159-1170, August 2026.
Abstract Objectives Sleep disturbances are frequent comorbidities in epilepsies and developmental encephalopathies. This study aimed to characterize sleep abnormalities in individuals with KCNB1‐related disorders, focusing on their prevalence, clinical manifestations, and impact on daily functioning.
Giovanna Scorrano, Delphine Breuillard, Anais Thimon, Nicole Chemaly, Rima Nabbout   +4 more
wiley   +1 more source

Ketogenic diets therapy in the management of epileptic spasms syndrome. [PDF]

Front Pediatr
Wang M, Zhao F, Sun L, Yu Y, Zhang H.
europepmc   +1 more source

Genetic landscape of patients with atypical absence status epilepticus: A systematic review

Epilepsia Open, Volume 11, Issue 4, Page 1111-1125, August 2026.
Abstract Atypical absence status epilepticus (AASE) is a rare subtype of nonconvulsive status epilepticus (NCSE), characterized by clouding of consciousness and continuous or fluctuating epileptiform activity, generally at a frequency below 3 Hz. Only sparse literature exists on the genetic conditions associated with it.
Maria Cristina Cioclu, Giada Giovannini, Stefano Meletti   +2 more
wiley   +1 more source

Upward eye deviation as a precursor to epileptic spasms: A case successfully treated with early corpus callosotomy without adrenocorticotropic hormone therapy. [PDF]

Epilepsy Behav Rep
Iimura Y, Suzuki H, Mitsuhashi T, Ueda T, Nishioka K, Nomura K, Abe S, Akiba T, Matsuda S, Sugano H, Kondo A.   +10 more
europepmc   +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, Volume 11, Issue 4, Page 1200-1213, August 2026.
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