Results 11 to 20 of about 527 (127)

Epilepsy in dentatorubral-pallidoluysian atrophy: A systematic review and meta-analysis. [PDF]

Epilepsia
Summary of key clinical and electrophysiological characteristics of DRPLA‐related epilepsy from a systematic review and meta‐analysis of 1,191 patients. DRPLA patients with epilepsy showed earlier disease onset, longer CAG repeat expansion, and a tendency toward paternal inheritance. EEG findings frequently included photoparoxysmal responses.
Horinouchi T, Ishibashi H, Nakagami Y, Kobayashi Takahashi Y, Akiba T, Miyauchi M, Yamamoto N, Inoue R, Kodama S, Kubota T, Kuroda N.   +10 more
europepmc   +2 more sources

First Reported Case of CLN5 Disease in Japan: Identification of a Novel Homozygous Pathogenic Variant Through Whole Genome Sequencing. [PDF]

Clin Case Rep
ABSTRACT Neuronal ceroid lipofuscinoses (NCL) belong to a group of inherited neurodegenerative diseases characterized by psychomotor regression, seizures, and visual impairment, resulting from intracellular accumulation of lipofuscin. CLN5, a subtype typically manifesting between ages 4 to 17, is particularly rare in non‐Finnish populations.
Nishi E, Yanagi K, Shima M, Yamazaki N, Kawato K, Narita A, Sakai N, Okamoto N, Yanagihara K, Kaname T.   +9 more
europepmc   +2 more sources

Focusing on an EEG Biomarker, the Photoparoxysmal Response (PPR), to Identify Promising Investigational Anti-Seizure Medications (ASMs) and Differentiate the Efficacy of Existing ASMs. [PDF]

Pharmacotherapy
Pharmacotherapy: The Journal of Human Pharmacology and Drug Therapy, Volume 45, Issue 10, Page 630-637, October 2025.
Reed RC, Kasteleijn-Nolst Trenite DGA.
europepmc   +2 more sources

Seizures and electroencephalographic findings in inborn errors of metabolism: Clues to differential diagnosis in the neonatal period, infancy, childhood and adolescence, and review of the literature. [PDF]

Epileptic Disord
Abstract Although inborn errors of metabolism (IEM) are a rare cause of epilepsy, seizures are a common presentation in these disorders. Seizures in IEM are frequently refractory to conventional anti‐seizure medication and might warrant initiation of specific treatments based on vitamins or dietary modifications or provision of alternative substrates ...
Kapoor D, Sharma S, Kaminska A, Nabbout R, Chemaly N, Schiff M, De Lonlay P, Eisermann M.   +7 more
europepmc   +2 more sources

Functional network dynamics in photosensitive epilepsy depend on stimulation frequency and photoparoxysmal electroencephalographic response. [PDF]

Epilepsia
Abstract Objective Photosensitive epilepsy (PSE) is a reflex epilepsy, where abnormal electroencephalographic (EEG) responses are induced by photic stimulation. Photosensitivity is classified into four types based on the propagation of the brain's response to visual stimuli.
Timar L, Deplazes S, Bothmann J, Renzel R, Ledergerber D, Dubcek T, Imbach L.   +6 more
europepmc   +2 more sources

Familial adult myoclonus epilepsy: A comprehensive diagnostic strategy for clinical practice. [PDF]

Epilepsia
Abstract Familial adult myoclonus epilepsy (FAME) is a genetic neurological disorder characterized by cortical myoclonus and epileptic seizures with clinical features that overlap with other movement disorders and epileptic syndromes, particularly essential tremor (ET), progressive myoclonic epilepsy (PME), and juvenile myoclonic epilepsy (JME).
Lu Y, Ge Y, Wang R, Zheng Y, Zhou J, Wang Z, Shen C, Wang S, Hu L, Wang B, Cen Z, Luo W, Ding M, Wang S, Ding Y.   +14 more
europepmc   +2 more sources

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

Epilepsia Open
Abstract Pathogenic variants in SLC6A1 cause a neurodevelopmental disorder characterized by developmental delay with behavioral disturbances, seizures, often pharmacoresistant, and a spectrum of movement disorders such as ataxia. A similar triad is observed in other monogenic conditions, such as SLC2A1, CHD2, and CACNA1A‐related disorders, where ...
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   +2 more sources

Epilepsy Phenotypic Spectrum of NUS1-Related Disorder: A Case Series. [PDF]

Ann Child Neurol Soc
ABSTRACT Background Epilepsy with myoclonic and atonic seizures (EMAtS), also known as Doose syndrome, accounts for 1%–2% of childhood epilepsies, and various genes have been implicated in causing this epilepsy syndrome. NUS1 encodes for Nogo‐B receptor (NgBR), which stabilizes the dehydrodolichyl‐diphosphate synthase complex in the endoplasmic ...
Ahmadi S, Fulton N, Morrissey M, Landre R, Tomko S, Urano F, Guerriero RM.   +6 more
europepmc   +2 more sources

Seminar in Epileptology: Normal awake and sleep patterns, interictal abnormalities, and ictal patterns on scalp EEG. [PDF]

Epileptic Disord
Abstract The accurate interpretation of scalp EEG remains an instrumental diagnostic component of epilepsy care. Knowledge of what constitutes normal EEG findings, non‐epileptiform abnormalities, and epileptiform patterns—both ictal and interictal—is essential for appropriate patient management.
Alcala-Zermeno JL, Katyal R, Frauscher B, Schomer D, Sperling MR, Strowd R, Tatum WO, Wirrell E, Beniczky S, Nascimento FA.   +9 more
europepmc   +2 more sources

Hidden inside the sulci: Utility of voxel-based morphometric analysis program in localizing precuneus epilepsy. [PDF]

Epileptic Disord
Epileptic Disorders, Volume 27, Issue 5, Page 1051-1055, October 2025.
Hartnett P, Gundlapalli R, Moosa S, Zawar I.   +3 more
europepmc   +2 more sources