2,207 results match your criteria Reflex Epilepsy

Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy.

Neurology 2021 Jun 2. Epub 2021 Jun 2.

Center for Synaptic Neuroscience and Technology, Istituto Italiano di Tecnologia, Genoa, Italy.

Objective: To describe the clinical and genetic findings in a cohort of subjects with bathing epilepsy, a rare form of reflex epilepsy.

Methods: We investigated by Sanger and targeted re-sequencing the gene in 12 individuals from 10 different families presenting with seizures primarily triggered by bathing or showering. Additional twelve subjects with hot-water epilepsy were also screened. Read More

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Modeling seizures in the Human Phenotype Ontology according to contemporary ILAE concepts makes big phenotypic data tractable.

Epilepsia 2021 Jun 5;62(6):1293-1305. Epub 2021 May 5.

Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.

Objective: The clinical features of epilepsy determine how it is defined, which in turn guides management. Therefore, consideration of the fundamental clinical entities that comprise an epilepsy is essential in the study of causes, trajectories, and treatment responses. The Human Phenotype Ontology (HPO) is used widely in clinical and research genetics for concise communication and modeling of clinical features, allowing extracted data to be harmonized using logical inference. Read More

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Characteristics of visual sensitivity in familial cortical myoclonic tremor and epilepsy.

Epileptic Disord 2021 Apr;23(2):366-375

Epilepsy and Sleep Disorders Unit, Department of Neurology, Xijing hospital, Air Force Military Medical University, Xi'an, China.

The aim of the study was to describe the electroclinical features of visual sensitivity in patients with familial cortical myoclonic tremor and epilepsy. We searched the EEG database using the terms "familial cortical myoclonic tremor and epilepsy" and "visual sensitivity" over a seven-year period from March 2013 to April 2020 in the Xijing hospital, Xi'an, China. The inclusion criteria were demonstrable electroclinical visual sensitivity in the form of eye-opening sensitivity, eye-closure sensitivity, eyes-closed sensitivity and photosensitivity. Read More

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Rapidly spreading seizures arise from large-scale functional brain networks in focal epilepsy.

Neuroimage 2021 Apr 29;237:118104. Epub 2021 Apr 29.

Departments of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka 812-8582, Japan. Electronic address:

It remains unclear whether epileptogenic networks in focal epilepsy develop on physiological networks. This work aimed to explore the association between the rapid spread of ictal fast activity (IFA), a proposed biomarker for epileptogenic networks, and the functional connectivity or networks of healthy subjects. We reviewed 45 patients with focal epilepsy who underwent electrocorticographic (ECoG) recordings to identify the patients showing the rapid spread of IFA. Read More

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Specific vagus nerve stimulation parameters alter serum cytokine levels in the absence of inflammation.

Bioelectron Med 2020 Apr 10;6(1). Epub 2020 Apr 10.

Laboratory of Biomedical Science, Feinstein Institutes for Medical Research, Northwell Health, 350 Community Drive, Manhasset, NY, 11030, USA.

Background: Electrical stimulation of peripheral nerves is a widely used technique to treat a variety of conditions including chronic pain, motor impairment, headaches, and epilepsy. Nerve stimulation to achieve efficacious symptomatic relief depends on the proper selection of electrical stimulation parameters to recruit the appropriate fibers within a nerve. Recently, electrical stimulation of the vagus nerve has shown promise for controlling inflammation and clinical trials have demonstrated efficacy for the treatment of inflammatory disorders. Read More

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Early juvenile reading epilepsy and later frontotemporal dementia (FTD): expanding the clinical phenotype of C9ORF72 mutation?

Amyotroph Lateral Scler Frontotemporal Degener 2021 Apr 5:1-4. Epub 2021 Apr 5.

SC Neurologia AOU Policlinico di Monserrato, Cagliari, Italy and.

C9orf72 mutation (C9) is a common genetic cause of frontotemporal dementia and amyotrophic lateral sclerosis. C9 clinical phenotype is heterogeneous and epilepsy has been recently described in few cases. We report a 47-year-old patient who developed reflex reading epilepsy (RRE) at the age of 19. Read More

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It is not a simple startle but a sound-induced reflex epilepsy.

Kutluhan Yilmaz

J Paediatr Child Health 2021 Mar 31. Epub 2021 Mar 31.

Division of Pediatric Neurology, Department of Pediatrics, Faculty of Medicine, Ordu University, Ordu, Turkey.

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Perampanel and pregnancy.

Epilepsia 2021 Mar;62(3):698-708

Department of Neuroscience, Central Clinical School, The Alfred Hospital, Monash University, Melbourne, Victoria, Australia.

Objective: The objective was to summarize pregnancy and fetal/postnatal outcomes following maternal perampanel exposure using preclinical and clinical data, and to use physiologically based pharmacokinetic (PBPK) modeling to improve understanding of perampanel pharmacokinetics (PK) during pregnancy.

Methods: Preclinical developmental studies with perampanel were conducted in pregnant rats and rabbits. Clinical data were collated from the Eisai global perampanel safety database, comprising reports of perampanel exposure during pregnancy from routine clinical settings, interventional studies, and non-interventional post-marketing studies, searched for events coded to Medical Dictionary for Regulatory Activities (MedDRA) high-level group terms of Pregnancy, Labor, Delivery, and Postpartum Conditions and/or the Standardized MedDRA Query terms of Congenital, Familiar, and Genetic Disorders. Read More

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SYNGAP1-DEE: A visual sensitive epilepsy.

Clin Neurophysiol 2021 Apr 3;132(4):841-850. Epub 2021 Feb 3.

Reference Centre for Rare Epilepsies, Department of Pediatric Neurology, Necker Enfants Malades Hospital, Imagine Institute, Paris Descartes University, Paris, France; Department of Paediatric Neurology, Necker-Enfants Malades Hospital, University of Paris, AP-HP, Paris, France. Electronic address:

Objective: To further delineate the electroclinical features of individuals with SYNGAP1 pathogenic variants.

Methods: Participants with pathogenic SYNGAP1 variants and available video-electroencephalogram (EEG) recordings were recruited within five European epilepsy reference centers. We obtained molecular and clinical data, analyzed EEG recordings and archived video-EEGs of seizures and detailed characteristics of interictal and ictal EEG patterns for every patient. Read More

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Cognitive tasks as provocation methods in routine EEG: a multicentre field study.

Epileptic Disord 2021 Feb;23(1):123-132

Medical Sciences Post-Graduation Program, Federal University of Santa Catarina, (UFSC), Florianópolis, SC, Brazil, Danish Epilepsy Centre, Dianalund, Denmark.

This study aimed to analyse the effect of neuropsychological activation methods on interictal epileptiform discharges, compared to standard activation methods, for both focal and generalized epilepsies. This was a multicentre, prospective study including 429 consecutive EEG recordings of individuals with confirmed or suspected diagnosis of epilepsy. Neuropsychological activation included reading aloud in foreign and native language, praxis and a letter cancelation task (each with a duration of three minutes). Read More

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February 2021

[Go-induced epilepsy treatment with levetiracetam successfully prevented seizures].

Rinsho Shinkeigaku 2021 Mar 23;61(3):204-206. Epub 2021 Feb 23.

Comprehensive Epilepsy Center, Seirei Hamamatsu General Hospital.

There are only a few reports on Go-induced epilepsy. We hereby report a case of Go-induced epilepsy and its ictal electroencephalography (EEG) findings, and treatment. A 71-year-old man reported to our hospital for seizures that lasted for several minutes after he had played Go for approximately an hour. Read More

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SEEG re-exploration in a patient with complex frontal epilepsy with rapid perisylvian propagation and mixed "startle - reflex" seizures.

Epileptic Disord 2021 Feb;23(1):180-190

Claudio Munari Epilepsy Surgery Centre, Neurosciences Department, GOM Niguarda Hospital, Milano, Italy.

The SEEG International Course, organised in 2017, focused on the investigation and surgery of insulo-perisylvian epilepsies. We present one representative complex case that was discussed. The patient had seizures displaying startle/reflex components. Read More

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February 2021

Ictal activation of oxygen-conserving reflexes as a mechanism for sudden death in epilepsy.

Epilepsia 2021 Mar 11;62(3):752-764. Epub 2021 Feb 11.

Weldon School of Biomedical Engineering, Purdue University, West Lafayette, IN, USA.

Objective: To test the hypothesis that death with physiological parallels to human cases of sudden unexpected death in epilepsy (SUDEP) can be induced in seizing rats by ictal activation of oxygen-conserving reflexes (OCRs).

Methods: Urethane-anesthetized female Long-Evans rats were implanted with electrodes for electrocardiography (ECG), electrocorticography (ECoG), and respiratory thermocouple; venous and arterial cannulas; and a laryngoscope guide and cannula or nasal cannula for activation of the laryngeal chemoreflex (LCR) or mammalian diving reflex (MDR), respectively. Kainic acid injection, either systemic or into the ventral hippocampus, induced prolonged acute seizures. Read More

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Long-term prognosis of juvenile myoclonic epilepsy: A systematic review searching for sex differences.

Seizure 2021 Mar 23;86:41-48. Epub 2021 Jan 23.

IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy(2).

Purpose: Juvenile myoclonic epilepsy (JME), like other forms of idiopathic generalized epilepsy, shows a marked female predominance. However, few studies have specifically addressed the role of sex in its long-term prognosis. We performed a systematic review of the literature relevant to JME prognosis, focusing on sex-based differences in prognostic factors and outcome. Read More

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Network for Therapy in Rare Epilepsies (NETRE): Lessons From the Past 15 Years.

Front Neurol 2020 14;11:622510. Epub 2021 Jan 14.

Institute for Transition, Rehabilitation and Palliation, Paracelsus Medical University, Salzburg, Austria.

In 2005, twork for herapy in are pilepsies (NETRE)-was initiated in order to share treatment experiences among clinicians in patients with rare epilepsies. Here we describe the structure of the rapidly growing NETRE and summarize some of the findings of the last 15 years. NETRE is organized in distinct groups (currently >270). Read More

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January 2021

Clinical, Demographic, and Electroencephalographic Profile of Hot-Water Epilepsy in Children.

Indian J Pediatr 2021 Jan 8. Epub 2021 Jan 8.

Department of Pediatric Medicine, Indira Gandhi Institute of Child Health, Bangalore, India.

Objectives: The study attempts to characterize the clinical, demographic, risk factors, electroencephalographical, and neuroimaging features of hot-water epilepsy (HWE) in children.

Methods: This is a hospital-based observational study in the pediatric neurology clinic and who met the clinical definition of hot-water epilepsy were studied from January 2017 to October 2018. Clinical history, demographic data, and examination findings were recorded in a pre-structured proforma. Read More

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January 2021

The Effect of Cognitive Tasks During Electroencephalography Recording in Patients With Reflex Seizures.

Clin EEG Neurosci 2020 Dec 23:1550059420983622. Epub 2020 Dec 23.

School of Medicine, Department of Neurology, Istanbul University-Cerrahpaşa, Istanbul, Turkey.

Objective: We aimed to research the effect of cognitive tasks on interictal electroencephalographic (EEG) recordings in patients with epilepsy who had reported cognitive functions as a seizure trigger. We investigated the usefulness of cognitive function tasks as a method of activation in standard-awake EEG in daily practice.

Methods: Standard-awake EEG with cognitive activation tasks consisting of verbal and arithmetic tasks was administered to 35 (11. Read More

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December 2020

Abnormal neurodevelopment outcome in case of neonatal hyperekplexia secondary to missense mutation in gene.

BMJ Case Rep 2020 Dec 15;13(12). Epub 2020 Dec 15.

Neonatology, Apollo Cradle, Motinagar, New Delhi, India.

Hyperekplexia is an exaggerated startle to external stimuli associated with a generalised increase in tone seen in neonates with both sporadic and genetic predisposition. This is an uncommon neurological entity that is misdiagnosed as seizure. A 28-days-old infant was admitted to us with characteristic intermittent generalised tonic spasm being treated as a seizure disorder. Read More

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December 2020

EEG Patterns Orienting to Lafora Disease Diagnosis-A Case Report in Two Beagles.

Front Vet Sci 2020 5;7:589430. Epub 2020 Nov 5.

Department of Preclinical and Clinical Sciences, Faculty of Veterinary Medicine, University of Agricultural Sciences and Veterinary Medicine, Cluj-Napoca, Romania.

Lafora Disease (LD) is a rare, fatal, late-onset, progressive form of myoclonic epilepsy, occurring in humans and dogs. Clinical manifestations of LD usually include seizures, spontaneous and reflex myoclonus with contractions of the neck and limb muscles. We studied the electroencephalogram (EEG) patterns of two beagles in whom LD was subsequently confirmed by genetic testing. Read More

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November 2020

Kcnj16 knockout produces audiogenic seizures in the Dahl salt-sensitive rat.

JCI Insight 2021 01 11;6(1). Epub 2021 Jan 11.

Department of Physiology.

Kir5.1 is an inwardly rectifying potassium (Kir) channel subunit abundantly expressed in the kidney and brain. We previously established the physiologic consequences of a Kcnj16 (gene encoding Kir5. Read More

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January 2021

Transcutaneous Vagus Nerve Stimulation in Humans Induces Pupil Dilation and Attenuates Alpha Oscillations.

J Neurosci 2021 01 19;41(2):320-330. Epub 2020 Nov 19.

Department of Physiology and Pharmacology, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv-Yafo 69978, Israel

Vagus nerve stimulation (VNS) is widely used to treat drug-resistant epilepsy and depression. While the precise mechanisms mediating its long-term therapeutic effects are not fully resolved, they likely involve locus coeruleus (LC) stimulation via the nucleus of the solitary tract, which receives afferent vagal inputs. In rats, VNS elevates LC firing and forebrain noradrenaline levels, whereas LC lesions suppress VNS therapeutic efficacy. Read More

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January 2021

Local Sleep Slow-Wave Activity Colocalizes With the Ictal Symptomatogenic Zone in a Patient With Reflex Epilepsy: A High-Density EEG Study.

Front Syst Neurosci 2020 21;14:549309. Epub 2020 Oct 21.

Department of Neurology, University of Wisconsin-Madison, Madison, WI, United States.

: Slow-wave activity (SWA) during non-rapid eye movement (NREM) sleep reflects synaptic potentiation during preceding wakefulness. Epileptic activity may induce increases in state-dependent SWA in human brains, therefore, localization of SWA may prove useful in the presurgical workup of epileptic patients. We analyzed high-density electroencephalography (HDEEG) data across vigilance states from a reflex epilepsy patient with a clearly localizable ictal symptomatogenic zone to provide a proof-of-concept for the testability of this hypothesis. Read More

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October 2020

Sudden Unexplained Death in Childhood: A Neuropathology Review.

Front Neurol 2020 16;11:582051. Epub 2020 Oct 16.

Comprehensive Epilepsy Center, New York University School of Medicine, New York, NY, United States.

Sudden Unexplained Death in Childhood (SUDC) is the unexpected death of a child over age 12 months that remains unexplained after a thorough case investigation, including review of the child's medical history, circumstances of death, a complete autopsy and ancillary testing (1). First defined in 2005, SUDC cases are more often male, with death occurring during a sleep period, being found prone, peak winter incidence, associated with febrile seizure history in ~28% of cases and mild pathologic changes insufficient to explain the death (1, 2). There has been little progress in understanding the causes of SUDC and no progress in prevention. Read More

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October 2020

Impaired postnatal development of the hippocampus of Krushinsky-Molodkina rats genetically prone to audiogenic seizures.

Epilepsy Behav 2020 12 5;113:107526. Epub 2020 Nov 5.

Sechenov Institute of Evolutionary Physiology and Biochemistry of the Russian Academy of Sciences, 44 Thorez pr., 194223 St. Petersburg, Russia.

The hippocampus plays an important role in epilepsy progression even if it is not involved in seizure generalization. We hypothesized that abnormal development of the hippocampus may underlie epileptogenesis. Here we analyzed postnatal development of the hippocampus of Krushinsky-Molodkina (KM) rats, which are the animal model of reflex audiogenic epilepsy. Read More

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December 2020

Risk of seizure recurrence from antiepileptic drug withdrawal among seizure-free patients for more than two years.

Epilepsy Behav 2020 12 3;113:107485. Epub 2020 Nov 3.

Department of Neurology, The Seven Affiliated Hospital, Sun Yat-Sen University, Shenzhen, Guangdong Province 518107, China; Department of Neurology, The First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, Guangdong Province 510030, China. Electronic address:

Objective: The aim of this study was to determine the outcome of antiepileptic drug (AED) withdrawal in patients who were seizure-free for more than two years.

Methods: Patients with epilepsy who were seizure-free for at least two years and decided to stop AED therapy gradually were followed up every two months for seizure relapse. The inclusion criteria were as follows: (1) diagnosis of epilepsy, defined as the following conditions: ① at least two unprovoked (or reflex) seizures occurring >24 h apart; ② one unprovoked (or reflex) seizure and a probability of further seizures similar to the general recurrence risk (at least 60%) after two unprovoked seizures, occurring over the next 10 years; ③ diagnosis of an epilepsy syndrome; (2) patients remained seizure-free for at least 24 consecutive months during AED therapy; and (3) patients expressed a desire to discontinue AED therapy gradually and agreed to return for regular follow-ups. Read More

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December 2020

Age-Dependent and Sleep/Seizure-Induced Pathomechanisms of Autosomal Dominant Sleep-Related Hypermotor Epilepsy.

Int J Mol Sci 2020 Oct 30;21(21). Epub 2020 Oct 30.

Department of Neuropsychiatry, Division of Neuroscience, Graduate School of Medicine, Mie University, Tsu, Mie 514-8507, Japan.

The loss-of-function S284L-mutant α4 subunit of the nicotinic acetylcholine receptor (nAChR) is considered to contribute to the pathomechanism of autosomal dominant sleep-related hypermotor epilepsy (ADSHE); however, the age-dependent and sleep-related pathomechanisms of ADSHE remain to be clarified. To explore the age-dependent and sleep-induced pathomechanism of ADSHE, the present study determined the glutamatergic transmission abnormalities associated with α4β2-nAChR and the astroglial hemichannel in the hyperdirect and corticostriatal pathways of ADSHE model transgenic rats (S286L-TG) bearing the rat S286L-mutant gene corresponding to the human S284L-mutant gene of ADSHE, using multiprobe microdialysis and capillary immunoblotting analyses. This study could not detect glutamatergic transmission in the corticostriatal pathway from the orbitofrontal cortex (OFC) to the striatum. Read More

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October 2020

Seizures triggered by eating - A rare form of reflex epilepsy: A systematic review.

Seizure 2020 Dec 23;83:21-31. Epub 2020 Sep 23.

Department of Neuroscience, Monash Medical Centre, Melbourne, Australia; Department of Medicine, St. Vincent's Hospital, University of Melbourne, Melbourne, Australia.

Eating epilepsy is a rare disorder, characterised by reflex seizures induced by food intake. It is highly heterogenous, with clinical signs and EEG findings varying between patients. However, common features do emerge from the reported literature. Read More

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December 2020

Unravelling the disease mechanism for TSPYL1 deficiency.

Hum Mol Genet 2020 12;29(20):3431-3442

Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Leuven 3000, Belgium.

We describe a lethal combined nervous and reproductive systems disease in three affected siblings of a consanguineous family. The phenotype was characterized by visceroautonomic dysfunction (neonatal bradycardia/apnea, feeding problems, hyperactive startle reflex), severe postnatal progressive neurological abnormalities (including abnormal neonatal cry, hypotonia, epilepsy, polyneuropathy, cerebral gray matter atrophy), visual impairment, testicular dysgenesis in males and sudden death at infant age by brainstem-mediated cardiorespiratory arrest. Whole-exome sequencing revealed a novel homozygous frameshift variant p. Read More

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December 2020

Cardiac autonomic neuropathy in adult epilepsy patients in a tertiary hospital in South-Western Nigeria.

Niger J Clin Pract 2020 Oct;23(10):1437-1442

Department of Medicine, University of Ibadan/University College Hospital, Ibadan, Nigeria.

Background: Cardiac autonomic neuropathy (CAN) resulting from seizures has been implicated in sudden unexpected death in epilepsy in persons with epilepsy (PWE), however, there are no previous studies of CAN in PWE from Nigeria.

Objectives: This study sought to determine the frequency and pattern of CAN in adult PWE in a tertiary hospital in South-western Nigeria and to determine the relationship between seizure variables and CAN.

Methods: A cross-sectional study of 80 adult PWE and 80 matched controls aged between 18 and 60 years was carried out between March 2012 and June 2013 at the Obafemi Awolowo University Teaching Hospital Complex, Ile-Ife, Nigeria. Read More

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October 2020

Seizures triggered by eating: a rare form of reflex epilepsy.

Epileptic Disord 2020 Oct;22(5):648-653

Department of Neuroscience, Monash Medical Centre, Melbourne, Australia, School of Clinical Sciences at Monash Health, Department of Medicine, Monash University, Melbourne, Australia, Department of Medicine, St. Vincent's Hospital, University of Melbourne, Melbourne, Australia.

Eating epilepsy is rare and comprises reflex seizures induced by food intake presenting with broad clinical manifestations. Despite this heterogeneity, a unique focal impaired awareness seizure semiology localizing to specific brain regions has been noted. Here, we present a case with video-EEG depicting this characteristic clinical presentation and its informative electrographic correlate. Read More

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October 2020