Results 161 to 170 of about 6,465 (257)

Molecular Profiling of Polish Pediatric Patients with Epilepsy: A Single-Center Diagnostic Experience Using Next-Generation Sequencing. [PDF]

Genes (Basel)
Chałupczyńska B, Ciara E, Halat-Wolska P, Pollak A, Stawiński P, Jurkiewicz D, Piekutowska-Abramczuk D, Gawlik M, Pietrasik J, Cieślikowska A, Wicher D, Ulatowska A, Jedlińska D, Borkowska J, Chmielewski D, Dunin-Wąsowicz D, Kotulska-Jóźwiak K, Chrzanowska K, Madej-Pilarczyk A.   +18 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

Adjunctive acetazolamide for drug-resistant seizures in SLC6A1-related neurodevelopmental disorder: An exploratory case series. [PDF]

Epilepsia Open
Melikishvili G, Dulac O, Koniashvili O, Mamardashvili G, Gachechiladze T, Tabatadze N, Melikishvili M, Gamirova R, Tomenko T, Bakhtin I, Freed A, Bossi E, Ben-Zeev B, Kluger G, Falace A, Riva A, Kaila K, Striano P.   +17 more
europepmc   +1 more source

STXBP1 Variants Associated With Epilepsy With Variable Severity

CNS Neuroscience &Therapeutics, Volume 32, Issue 8, August 2026.
STXBP1‐related disorders range from mild epilepsy to DEE, and severity aligns with impact on structure and Munc18‐1 abundance. Noncore inherited variants are stable with preserved Munc18‐1 and a favorable prognosis, whereas de novo core variants reduce Munc18‐1, causing severe seizures, neurodevelopmental deficits, and poorer outcomes.
Meng Xu, Xuan Guo, Zhi‐kui Wang, Yang Qi, Ting‐ting Ye, Jie Xu, Wei‐wen Deng, Min‐zhi Zhuang, Yi‐wu Shi, Fu Xiong, Xiao‐rong Liu, For the China Epilepsy Gene 1.0 Project   +11 more
wiley   +1 more source

A Stroke of Insight? Possible Bidirectional Relationship Between Stroke and Epilepsy. [PDF]

Epilepsy Curr
Terman SW.
europepmc   +1 more source

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

Epilepsia Open, Volume 11, Issue 4, Page 1095-1110, August 2026.
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

Juvenile myoclonic epilepsy heterogeneity uncovered: Z-mapped imaging endophenotypes of cortical and subcortical structures and their clinical, cognitive and psychiatric features. [PDF]

Brain Commun
Struck AF, Garcia-Ramos C, Prabhakaran V, Nair V, Adluru A, Philibert-Rosas S, Almane DN, Adluru N, Jones JE, Hermann BP.   +9 more
europepmc   +1 more source

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

Epilepsia Open, Volume 11, Issue 4, Page 1184-1199, August 2026.
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

Beyond Seizures: A Comprehensive Review of Giant Somatosensory Evoked Potentials. [PDF]

J Clin Med
Magro G.
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