Results 21 to 30 of about 568 (146)

Temporal Onset Focal Seizures Induced by Intermittent Photic Stimulation

Frontiers in Neurology, 2021
The study aimed to review the clinical, radiological, and pathological findings and electroencephalogram (EEG) of pediatric epilepsy patients with temporal onset focal seizures induced by intermittent photic stimulation (IPS). Four patients with temporal
Yue Niu, Pan Gong, Xianru Jiao, Haipo Yang, Zhixian Yang   +4 more
doaj   +1 more source

Genetics of Photosensitivity (Photoparoxysmal Response): A Review [PDF]

Epilepsia, 2004
Summary: We present a review of phenotype–genotype correlation and the genetics of photosensitivity. The photoparoxysmal response in EEG (PPR) is still one of the best paradigms for exogenously triggered brain responses based on a genetic predisposition. The definition of the PPR phenotype requires multiple, precise methodologic guidelines.
Ulrich, Stephani, Ulrike, Tauer, Bobby, Koeleman, Dalila, Pinto, Bernd A, Neubauer, Dick, Lindhout   +5 more
openaire   +2 more sources

Data Augmentation Effects on Highly Imbalanced EEG Datasets for Automatic Detection of Photoparoxysmal Responses

Sensors, 2023
Photosensitivity is a neurological disorder in which a person’s brain produces epileptic discharges, known as Photoparoxysmal Responses (PPRs), when it receives certain visual stimuli. The current standardized diagnosis process used in hospitals consists
Fernando Moncada Martins, Víctor Manuel González Suárez, José Ramón Villar Flecha, Beatriz García López   +3 more
doaj   +1 more source

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

Intermittent photic stimulation triggering a temporal lobe seizure in a patient with schizencephaly and pachygyria

Epilepsy & Behavior Reports, 2021
Photic stimulation is a common trigger for generalized epilepsies but may rarely incite focal seizures. Aside from documented cases of photosensitive occipital lobe epilepsies, few reported instances exist of focal epilepsies being triggered by ...
Nicholas J. Bratt, Cliff W. Hampton
doaj   +1 more source

The challenge of ultra-rarity: Dual diagnosis of Lafora disease and developmental encephalopathies linked to TRIO and SHANK3 pathogenic variants. [PDF]

Epilepsia Open
Abstract We report two cases of dual genetic diagnoses involving Lafora disease (LD) and co‐occurring neurodevelopmental disorders caused by pathogenic variants in TRIO and SHANK3, respectively. LD is an ultra‐rare, autosomal recessive, severe form of progressive myoclonus epilepsy affecting previously healthy children or adolescents. In both patients,
Muccioli L, Bisulli F, Minardi R, Valentino ML, De Simone M, Paroni RA, Cesnik E, Fallica E, Bonan L, Pizzi E, DEFEAT‐LD Study Group, Cantalupo G, Licchetta L.   +12 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

Optical Filters for TV-Induced Photosensitive Epilepsy

Pediatric Neurology Briefs, 2001
Two different types of optical filters were tested in 20 photosensitive epileptic patients for ability to inhibit photoparoxysmal response (PPR) and seizures, in a study at Gifu Prefectural Gifu Hospital, Japan.
J Gordon Millichap
doaj   +1 more source

Photosensitivity and CHD2 Variants

Pediatric Neurology Briefs, 2015
Investigators from multinational institutions hypothesized that disruption of CHD2, which encodes chromodomain helicase DNA-binding protein 2, would be associated with common forms of photosensitive epilepsy or photosensitivity manifesting as a ...
Rebecca García Sosa, Srishti Nangia
doaj   +1 more source

Mechanisms of Photosensitive Epilepsies

Pediatric Neurology Briefs, 1999
Intermittent photic stimulation was performed in 21 photosensitive epileptic patients and the relation of the photoparoxysmal response (PPR) to the epilepsy syndrome was determined in a study at the National Epilepsy Center, Shizuoka Higashi Hospital ...
J Gordon Millichap
doaj   +1 more source