Results 11 to 20 of about 568 (146)

Low-Frequency Photoparoxysmal Responses in a Patient With MELAS. [PDF]

Rev Neurol
Lu YH, Niu DM, Lin WS.
europepmc   +3 more sources

Red-light flashing pens and seizures in children. [PDF]

Dev Med Child Neurol
Guidelines exist to limit seizure‐provoking visual stimuli. However, existing recommendations are not universally applied, and poorly regulated flickering lights are easily encountered in consumer products. Two girls experienced prolonged absence seizures triggered by a red‐light flickering pen.
Gasparini S, Dainelli A, Piras F, Balestrini S, Guerrini R.   +4 more
europepmc   +2 more sources

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

Interrater agreement of classification of photoparoxysmal electroencephalographic response [PDF]

Epilepsia, 2020
AbstractOur goal was to assess the interrater agreement (IRA) of photoparoxysmal response (PPR) using the classification proposed by a task force of the International League Against Epilepsy (ILAE), and a simplified classification system proposed by our group.
Sándor Beniczky, Harald Aurlien, Silvana Franceschetti, Antonio Martins da Silva, Francesca Bisulli, Carla Bentes, Laura Canafoglia, Lorenzo Ferri, David Krýsl, Ana Rita Peralta, Attila Rácz, J. Helen Cross, Alexis Arzimanoglou   +12 more
openaire   +5 more sources

Successful use of perampanel in GABRA1-related myoclonic epilepsy with photosensitivity

Epilepsy & Behavior Reports, 2022
Pathogenic variants in gamma-aminobutyric acid type A receptor subunit alpha1 (GABRA1) is a protein coding gene that has been associated with a broad phenotypic spectrum of epilepsies.
Sara Olivotto, Anna Freddi, Rossella Lavatelli, Eleonora Basso, Alessia Leidi, Barbara Castellotti, Luigina Spaccini, Stefania Maria Bova, Pierangelo Veggiotti   +8 more
doaj   +1 more source

Genetic and phenotypic spectrum of Chinese patients with epilepsy and photosensitivity

Frontiers in Neurology, 2022
ObjectiveTo determine the contribution of genetic etiologies in epilepsy with photosensitivity.MethodsA total of 35 epileptic patients with genetic photosensitivity from January 2019 to May 2021 were analyzed.ResultsPathogenic variants were identified in
Yue Niu, Pan Gong, Xianru Jiao, Zhao Xu, Yuehua Zhang, Zhixian Yang   +5 more
doaj   +1 more source

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

Neurophysiological Findings in Neuronal Ceroid Lipofuscinoses

Frontiers in Neurology, 2022
Neuronal ceroid lipofuscinoses (NCLs) are a heterogeneous group of neurodegenerative diseases, characterized by progressive cerebral atrophy due to lysosomal storage disorder. Common clinical features include epileptic seizures, progressive cognitive and
Marina Trivisano, Alessandro Ferretti, Costanza Calabrese, Nicola Pietrafusa, Ludovica Piscitello, Giusy Carfi' Pavia, Federico Vigevano, Nicola Specchio   +7 more
doaj   +1 more source

Seasonal variations in the incidence of photoparoxysmal response. [PDF]

J Neurol Neurosurg Psychiatry, 1989
Trenité DG, Binnie CD, Oosting J, Van Emde Boas W.   +3 more
europepmc   +4 more sources