Results 151 to 160 of about 6,465 (257)

Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy

Annals of Neurology, Volume 100, Issue 3, Page 655-671, September 2026.
Objective Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy.
Luiza L. P. Ramos, Jevin M. Parmar, Robin Wijngaard, Bianca R. Grosz, Tamas Lazar, Ligia Mateiu, Steve Vucic, Kishore R. Kumar, Dennis Yeow, Laura I. Rudaks, Lonneke de Boer, Annemarie de Vreugd, David A. Koolen, Thatjana Gardeitchik, Anita Cairns, Krishnan Iyengar, Fernando Kok, Fernanda Barbosa Figueiredo, Alzira Alves de Siqueira Carvalho, Luiz S. Mageste Barbosa, Rodrigo Rezende Arantes, Tyler Rehbein, Jordan E. Bontrager, Elizabeth P. Wood, Janet E. Sowden, Gavin Monahan, Meutia Kumaheri, Ivy Cuijt, Melina Ellis, Gonzalo Perez‐Siles, Elyshia McNamara, Ronald van Beek, Celine B. Meijers, Ivaylo Tournev, Stephan Zuchner, Shoshana J. Wodak, Clara D. M. van Karnebeek, Nigel Laing, Liana N. Semcesen, David A. Stroud, David N. Herrmann, Velina Guergueltcheva, Marina L. Kennerson, Machteld M. Oud, Gianina Ravenscroft, Ayse Candayan, Albena Jordanova   +46 more
wiley   +1 more source

Relationships between pre‐, post‐, and inter‐ictal psychiatric symptoms in patients with epilepsy

Psychiatry and Clinical Neurosciences Reports, Volume 5, Issue 3, September 2026.
Abstract Aim Although pre‐ and post‐ictal psychiatric symptoms (PS) in patients with epilepsy are well known, the prevalences and pathophysiologies remain unclear. We investigated the prevalences and durations of pre‐ and post‐ictal PS, related factors, and associations between pre‐ and post‐ictal PS. Methods In the Neuropsychiatry Department of Kurume
Shingo Yasumoto, Hiromichi Motooka, Yuji Ito, Masaya Mashimoto, Kenta Murotani, Ryota Ogata, Motohiro Ozone   +6 more
wiley   +1 more source

Autism Spectrum Disorder and Atypical Epilepsy Presentation in KCNQ3 Mutations: Expansion of Phenotypic Spectrum With Neuroimaging Findings. [PDF]

Case Rep Pediatr
Pereira DA, Helmer RS, Silva MLS, Ferreira LS.   +3 more
europepmc   +1 more source

Epileptic–Dyskinetic Encephalopathy Associated with a PPP3CA Variant: Expansion of the Phenotypic Spectrum

Movement Disorders Clinical Practice, EarlyView.
Bruno Antunes Contrucci, Ursula Thomé, Larissa Aparecida Batista, Ana Laura Volpi Martins Lorenzoni, Carla Andrea Cardoso Tanuri Caldas, Americo Ceiki Sakamoto, Israel Gomy, Lisandra Mesquita Batista, Marcela Lopes de Almeida, Ana Paula Andrade Hamad, Guillermo Andrey Ariza Traslaviña   +10 more
wiley   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, Volume 13, Issue 8, Page 1543-1557, August 2026.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, Volume 13, Issue 8, Page 1628-1637, August 2026.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Efficacy and Safety of Adjunctive Perampanel in Young Children (7-46 Months) With Drug-Resistant Epilepsy: A Real-World Study. [PDF]

CNS Neurosci Ther
Zeng Q, Xia X, Zheng H, Yang L, Jiang L, Hu Y.   +5 more
europepmc   +1 more source

Association Between a Body Shape Index and Epilepsy Among US Adults: Potential Indirect Pathway Through Depressive Symptoms

Brain and Behavior, Volume 16, Issue 8, August 2026.
ABSTRACT Background Epilepsy is a common and disabling brain disorder. Whether a body shape index (ABSI) is associated with epilepsy, and whether depressive symptoms may partly account for this association, remain unclear. Methods We analyzed 13,066 participants from the National Health and Nutrition Examination Survey 2013–2018.
Qiaoduan Feng, Xiujuan Mi, Hongbin Tang, Shaokun Yang, Can Wan, Jinsong You, Jun Tang   +6 more
wiley   +1 more source

Do generalized epilepsies exhibit more attentional or executive disorders? [PDF]

Epilepsy Behav Rep
Lacour B, Heintz V, Forthoffer N, Chassagnon S, Jager A, Maillard L, Brissart H.   +6 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