2,139 results match your criteria Reflex Epilepsy


Mapping the insula with stereo-electroencephalography: The emergence of semiology in insula lobe seizures.

Ann Neurol 2020 Jun 15. Epub 2020 Jun 15.

Univ. Grenoble Alpes, Inserm, U1216, Grenoble Institut Neurosciences, GIN, 38000, Grenoble, France.

Objective: Insula epilepsy is rare and can be evaluated effectively by Stereotactic intracerebral EEG (SEEG). Many previous studies of insulo-opercular seizures have been unable to separate insular and opercular onset. With adequate sampling of the insula, this study shows this is possible. Read More

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http://dx.doi.org/10.1002/ana.25817DOI Listing

Rare homozygous nonsense variant in AIMP1 causing Early Onset Epileptic Encephalopathy with Burst Suppression (EOEE-BS).

Eur J Med Genet 2020 Jun 10;63(9):103970. Epub 2020 Jun 10.

Hackensack University Medical Center, Hackensack, NJ, USA; Northeast Regional Epilepsy Group, Hackensack, NJ, USA; Hackensack Meridian School of Medicine, Nutley, NJ, USA.

Pathogenic variants in AIMP1 gene are rare causes of neurologic disorders. Homozygous frameshift and nonsense variants in AIMP1 have been described in severe neurodegenerative disease. This is the third report of a homozygous nonsense variant in AIMP1 [c. Read More

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http://dx.doi.org/10.1016/j.ejmg.2020.103970DOI Listing

Inferior Colliculus Transcriptome After Status Epilepticus in the Genetically Audiogenic Seizure-Prone Hamster GASH/Sal.

Front Neurosci 2020 26;14:508. Epub 2020 May 26.

Institute of Neurosciences of Castilla y León, University of Salamanca, Salamanca, Spain.

The Genetic Audiogenic Seizure Hamster from Salamanca (GASH/Sal), an animal model of reflex epilepsy, exhibits generalized tonic-clonic seizures in response to loud sound with the epileptogenic focus localized in the inferior colliculus (IC). Ictal events in seizure-prone strains cause gene deregulation in the epileptogenic focus, which can provide insights into the epileptogenic mechanisms. Thus, the present study aimed to determine the expression profile of key genes in the IC of the GASH/Sal after the status epilepticus. Read More

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http://dx.doi.org/10.3389/fnins.2020.00508DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7264424PMC

Todd's paresis following vasovagal syncope provoked by tilt-table testing.

BMJ Case Rep 2020 Jun 7;13(6). Epub 2020 Jun 7.

Falls and Syncope Unit, Mercer's Institute for Successful Ageing, St James's Hospital, Dublin, Ireland.

A 38-year-old woman presented with a history of recurrent episodes of transient loss of consciousness (TLOC) with seizure-like activity and post-TLOC left sided paresis. Electroencephalogram and MRI of the brain were normal, and events were not controlled by anti-convulsant therapy. Tilt testing produced reflex mixed pattern vasovagal syncope, with exact symptom reproduction, including bilateral upper and lower limb myoclonic movements and post-TLOC left hemiparesis that persisted for 27 min. Read More

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http://dx.doi.org/10.1136/bcr-2020-234402DOI Listing

Eating Epilepsy in North India: Case Series and Its Management.

J Epilepsy Res 2019 Dec 31;9(2):152-156. Epub 2019 Dec 31.

Department of Neurology, Medanta Institute of Neuroscience, Medanta- The Medicity Hospital, Haryana, India.

Eating epilepsy is a rare form of reflex epilepsy where seizures are triggered by eating. We describe a case series of 12 such patients presenting to our epilepsy clinic based in North India. Eating epilepsy was noted to have male predominance with focal seizures with impaired awareness. Read More

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http://dx.doi.org/10.14581/jer.19019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7251346PMC
December 2019

Top of Basilar Syndrome Presenting With Hyperekplexia Initially Diagnosed as a Convulsive Status Epilepticus.

J Emerg Med 2020 May 22. Epub 2020 May 22.

Department of Neurology University of Oklahoma Medical Center, Oklahoma City, Oklahoma.

Background: Hyperekplexia is a rare neurologic disorder characterized by pronounced startle responses to tactile or acoustic stimuli and increase tone. Acquired hyperekplexia is usually seen in brainstem pathologies and when it develops acutely it can be easily misdiagnosed as a convulsive seizure.

Case Report: A 38-year-old man presented with acute onset generalized brief involuntary jerky movements and a decreased level of consciousness. Read More

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http://dx.doi.org/10.1016/j.jemermed.2020.04.038DOI Listing
May 2020
1.175 Impact Factor

Brain proton magnetic resonance spectroscopy findings in a Beagle dog with genetically confirmed Lafora disease.

J Vet Intern Med 2020 May 17. Epub 2020 May 17.

University of Zurich, Zurich, Switzerland.

Cortical atrophy has been identified using magnetic resonance imaging (MRI) in humans and dogs with Lafora disease (LD). In humans, proton magnetic resonance spectroscopy (1HMRS) of the brain indicates decreased N-acetyl-aspartate (NAA) relative to other brain metabolites. Brain 1HMRS findings in dogs with LD are lacking. Read More

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http://dx.doi.org/10.1111/jvim.15799DOI Listing

Unravelling the enigma of cortical tremor and other forms of cortical myoclonus.

Brain 2020 May 17. Epub 2020 May 17.

Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, University College London, London, UK.

Cortical tremor is a fine rhythmic oscillation involving distal upper limbs, linked to increased sensorimotor cortex excitability, as seen in cortical myoclonus. Cortical tremor is the hallmark feature of autosomal dominant familial cortical myoclonic tremor and epilepsy (FCMTE), a syndrome not yet officially recognized and characterized by clinical and genetic heterogeneity. Non-coding repeat expansions in different genes have been recently recognized to play an essential role in its pathogenesis. Read More

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http://dx.doi.org/10.1093/brain/awaa129DOI Listing

Morphological and molecular correlates of altered hearing sensitivity in the genetically audiogenic seizure-prone hamster GASH/Sal.

Hear Res 2020 Jul 26;392:107973. Epub 2020 Apr 26.

Institute of Neuroscience of Castilla y León (INCYL), University of Salamanca, Salamanca, Spain; Institute of Biomedical Research of Salamanca (IBSAL), University of Salamanca, Salamanca, Spain; Department of Cell Biology and Pathology, Faculty of Medicine, University of Salamanca, Salamanca, Spain. Electronic address:

Rodent models of audiogenic seizures, in which seizures are precipitated by an abnormal response of the brain to auditory stimuli, are crucial to investigate the neural bases underlying ictogenesis. Despite significant advances in understanding seizure generation in the inferior colliculus, namely the epileptogenic nucleus, little is known about the contribution of lower auditory stations to the seizure-prone network. Here, we examined the cochlea and cochlear nucleus of the genetic audiogenic seizure hamster from Salamanca (GASH/Sal), a model of reflex epilepsy that exhibits generalized tonic-clonic seizures in response to loud sound. Read More

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http://dx.doi.org/10.1016/j.heares.2020.107973DOI Listing

Characteristics of visual evoked potentials related to the electro-clinical expression of reflex seizures in photosensitive patients with idiopathic occipital lobe epilepsy.

Epilepsy Res 2020 Aug 27;164:106345. Epub 2020 Apr 27.

Department of Human Neurosciences, Sapienza University of Rome, Italy.

Seizures provoked by visual stimuli may be induced by abnormal responses to light (photosensitivity) and structured patterns (patternsensitivity). In this study, we analysed visual evoked potentials (VEPs) in three different samples: i) 38 photosensitive patients (21 males, 17 females; mean age 10.0 ± 2. Read More

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http://dx.doi.org/10.1016/j.eplepsyres.2020.106345DOI Listing

The GRIA3 c.2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus.

Mov Disord 2020 May 5. Epub 2020 May 5.

Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, Georgia, USA.

Background: Hemizygous mutations in GRIA3 encoding the GluA3 subunit of the amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor are known to be associated with neurodevelopmental disorders, including intellectual disability, hypotonia, an autism spectrum disorder, sleep disturbances, and epilepsy in males.

Objective: To describe a new and consistent phenotype in 4 affected male patients associated with an undescribed deleterious variant in GRIA3.

Methods: We evaluated a large French family in which segregate a singular phenotype according to an apparent X-linked mode of inheritance. Read More

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http://dx.doi.org/10.1002/mds.28058DOI Listing

Epileptic seizures triggered by eating in dogs.

J Vet Intern Med 2020 May 28;34(3):1231-1238. Epub 2020 Apr 28.

School of Veterinary Medicine, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, UK.

Background: Seizures triggered by eating (STE) behavior are very rare in humans and have not been documented previously in dogs.

Objectives: To document the occurrence of STE in dogs and describe their clinical features.

Animals: Ten client-owned dogs with STE diagnosed at 5 European referral centers. Read More

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http://dx.doi.org/10.1111/jvim.15773DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7255664PMC

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

Bioelectron Med 2020 10;6. 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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http://dx.doi.org/10.1186/s42234-020-00042-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7146955PMC

Praxis-induced reflex seizures in two Japanese cases with ring chromosome 20 syndrome.

Epileptic Disord 2020 Apr;22(2):214-218

Department of Paediatrics, Jichi Medical University, Shimotsuke, Japan.

Ring chromosome 20 syndrome is an epileptic and neurodevelopmental encephalopathy that occurs in children, characterised by a triad of refractory frontal lobe seizures, recurrent non-convulsive status epilepticus and frontal lobe-dominant paroxysmal discharges. However, details of other clinical features associated with ring chromosome 20 syndrome remain unknown. Here, we report two patients with ring chromosome 20 syndrome who had praxis-induced reflex seizures. Read More

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http://dx.doi.org/10.1684/epd.2020.1146DOI Listing

New-onset musicogenic epilepsy after temporal lobe epilepsy surgery.

Epileptic Disord 2020 Apr;22(2):202-206

Neurology Clinic, Clinical Center of Serbia, Belgrade.

Musicogenic epilepsy is a reflex epilepsy provoked by listening to or playing music. The epileptogenic network involves temporal regions, usually mesiotemporal structures. We present a 31-year-old female patient who experienced musicogenic seizures after a right temporal lobectomy with amygdalohippocampectomy that was performed in order to treat preexisting right mesio-temporal epilepsy. Read More

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http://dx.doi.org/10.1684/epd.2020.1144DOI Listing

Audiogenic kindling activates expression of vasopressin in the hypothalamus of Krushinsky-Molodkina rats genetically prone to reflex epilepsy.

J Neuroendocrinol 2020 Apr 16;32(4):e12846. Epub 2020 Apr 16.

Sechenov Institute of Evolutionary Physiology and Biochemistry of the Russian Academy of Sciences, Saint-Petersburg, Russia.

The present study analysed the effects of audiogenic kindling on the functional state of the vasopressinergic system of Krushinsky-Molodkina (KM) rats. KM rats represent a genetic model of audiogenic reflex epilepsy. Multiple audiogenic seizures in KM rats lead to the involvement of the limbic structures and neocortex in the epileptic network. Read More

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http://dx.doi.org/10.1111/jne.12846DOI Listing

Reflex Epilepsy with Hot Water: Clinical and EEG Findings, Treatment, and Prognosis in Childhood.

Neuropediatrics 2020 Apr 15. Epub 2020 Apr 15.

Division of Child Neurology, Department of Pediatrics, Abant İzzet Baysal University, Bolu, Turkey.

Hot water epilepsy (HWE) is a subtype of reflex epilepsy in which seizures are triggered by the head being immersed in hot water. Hot water or bathing epilepsy is the type of reflex epilepsy most frequently encountered in our clinic. We describe our patients with HWE and also discuss the clinical features, therapeutic approaches, and prognosis. Read More

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http://dx.doi.org/10.1055/s-0040-1709455DOI Listing

Recurrent seizures cause immature brain injury and changes in GABA a receptor α1 and γ2 subunits.

Epilepsy Res 2020 Jul 9;163:106328. Epub 2020 Apr 9.

Department of Pediatrics, The Affiliated Changzhou No.2 People's Hospital of Nanjing Medical University, Changzhou 213000, Jiangsu Province, China.

Objective: Recurrent seizures can cause brain damage and affect the cognitive outcome, particularly in developing children. We aimed to determine the effects of recurrent seizures on the expression of gamma-aminobutyric acid A receptor (GABAR) α1 and γ2 subunit and neurodevelopment in immature rats. The role of the GABAR agonist clonazepam and antagonist/partial agonist flumazenil in seizure-induced brain injury was also studied. Read More

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http://dx.doi.org/10.1016/j.eplepsyres.2020.106328DOI Listing

Case Series: Unilateral Amygdala Ablation Ameliorates Post-Traumatic Stress Disorder Symptoms and Biomarkers.

Neurosurgery 2020 Apr 7. Epub 2020 Apr 7.

Department of Neurosurgery, Emory University School of Medicine, Atlanta, Georgia.

Background: Post-traumatic stress disorder is a severe psychobiological disorder associated with hyperactivity of the amygdala, particularly on the right side. Highly selective laser ablation of the amygdalohippocampal complex is an effective neurosurgical treatment for medically refractory medial temporal lobe epilepsy that minimizes neurocognitive deficits relative to traditional open surgery.

Objective: To examine the impact of amygdalohippocampotomy upon symptoms and biomarkers of post-traumatic stress disorder. Read More

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http://dx.doi.org/10.1093/neuros/nyaa051DOI Listing

Safinamide's potential in treating nondystrophic myotonias: Inhibition of skeletal muscle voltage-gated sodium channels and skeletal muscle hyperexcitability in vitro and in vivo.

Exp Neurol 2020 Jun 20;328:113287. Epub 2020 Mar 20.

Department of Pharmacy & Drug Sciences, University of Bari Aldo Moro, Bari, Italy.

The antiarrhythmic sodium-channel blocker mexiletine is used to treat patients with myotonia. However, around 30% of patients do not benefit from mexiletine due to poor tolerability or suboptimal response. Safinamide is an add-on therapy to levodopa for Parkinson's disease. Read More

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http://dx.doi.org/10.1016/j.expneurol.2020.113287DOI Listing

Analysis of gene variants in the GASH/Sal model of epilepsy.

PLoS One 2020 13;15(3):e0229953. Epub 2020 Mar 13.

Institute of Neurosciences of Castilla y León, University of Salamanca, Salamanca, Spain.

Epilepsy is a complex neurological disorder characterized by sudden and recurrent seizures, which are caused by various factors, including genetic abnormalities. Several animal models of epilepsy mimic the different symptoms of this disorder. In particular, the genetic audiogenic seizure hamster from Salamanca (GASH/Sal) animals exhibit sound-induced seizures similar to the generalized tonic seizures observed in epileptic patients. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0229953PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7069730PMC

Behavioral and neurochemical characterization of the spontaneous mutation tremor, a new mouse model of audiogenic seizures.

Epilepsy Behav 2020 Apr 25;105:106945. Epub 2020 Feb 25.

Department of Pathology, School of Veterinary Medicine and Animal Science, University of São Paulo, Brazil.

The tremor mutant phenotype results from an autosomal recessive spontaneous mutation arisen in a Swiss-Webster mouse colony. The mutant mice displayed normal development until three weeks of age when they began to present motor impairment comprised by whole body tremor, ataxia, and decreased exploratory behavior. These features increased in severity with aging suggesting a neurodegenerative profile. Read More

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http://dx.doi.org/10.1016/j.yebeh.2020.106945DOI Listing
April 2020
2.257 Impact Factor

A detailed description of the phenotypic spectrum of North Sea Progressive Myoclonus Epilepsy in a large cohort of seventeen patients.

Parkinsonism Relat Disord 2020 03 18;72:44-48. Epub 2020 Feb 18.

Department of Neurology, University of Groningen, University Medical Center Groningen, Hanzeplein 1, 9700 RB, Groningen, the Netherlands; Department of Genetics, University of Groningen, University Medical Center Groningen, Hanzeplein 1, 9700 RB, Groningen, the Netherlands; Pediatrics, Department of Clinical Sciences, Lund University, Sweden. Electronic address:

Introduction: In 2011, a homozygous mutation in GOSR2 (c.430G > T; p. Gly144Trp) was reported as a novel cause of Progressive Myoclonus Epilepsy (PME) with early-onset ataxia. Read More

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http://dx.doi.org/10.1016/j.parkreldis.2020.02.005DOI Listing

The importance of semiological information based on epileptic seizure history.

Epileptic Disord 2020 Feb;22(1):15-31

Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo, Brazil.

Semiology is the backbone of any correct categorization of seizures, as epileptic or not, focal or bilateral, and is fundamental to elucidating how they are anatomically generated in the brain. An anatomical hypothesis derived from seizure history is the precondition for optimally designed ancillary studies. Without understanding seizure semiology, no rational therapy is possible. Read More

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http://dx.doi.org/10.1684/epd.2020.1137DOI Listing
February 2020

Case of catatonia misdiagnosed with coma.

Gen Psychiatr 2020 22;33(1):e100059. Epub 2020 Jan 22.

Department of Hemodialysis, Hubei Jingmen No. 1 Hospital, Hubei Province, China.

Catatonia is a state of high-degree psychomotor inhibition in which patients often maintain a constant fixed posture, and generally have unconscious obstacles and various reflex preservation. Patients suffering from severe catatonia will become stiff. Catatonia generally manifests unconsciousness while various reflexes are preserved. Read More

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http://dx.doi.org/10.1136/gpsych-2019-100059DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7003369PMC
January 2020

Reflex micturition defecation epilepsy in Angelman syndrome.

Neurol Clin Pract 2019 Dec;9(6):510-512

Department of Neurology, New York University, Comprehensive Epilepsy Center, New York, NY.

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http://dx.doi.org/10.1212/CPJ.0000000000000692DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6927446PMC
December 2019

SCN8A heterozygous variants are associated with anoxic-epileptic seizures.

Am J Med Genet A 2020 05 10;182(5):1209-1216. Epub 2020 Feb 10.

Pediatric Neurology Unit, Child and Adolescent Department, Geneva University Hospitals, Geneva, Switzerland.

Anoxic-epileptic seizures (AES) are rare outcomes of common childhood reflex anoxic syncope that trigger a true epileptic seizure. The term AES was coined by Stephenson in 1983, to differentiate these events from convulsive syncopes and the more common reflex anoxic syncopes. A genetic susceptibility for AES has been postulated; but, its molecular basis has up to now been elusive. Read More

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http://dx.doi.org/10.1002/ajmg.a.61513DOI Listing

Clinical significance of the long-loop reflex and giant evoked potentials in genetically proven benign adult familial myoclonic epilepsy.

Clin Neurophysiol 2020 Apr 27;131(4):978-980. Epub 2020 Jan 27.

Department of Neurology, National Hospital Organization Utano National Hospital, Kyoto, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.clinph.2020.01.005DOI Listing

Autoimmune musicogenic epilepsy associated with anti-glutamic acid decarboxylase antibodies and Stiff-person syndrome.

Clin Case Rep 2020 Jan 12;8(1):61-64. Epub 2019 Dec 12.

Neurology Department University Hospitals Cleveland Medical Center and Case Western Reserve University School of Medicine Cleveland OH USA.

Epilepsy should be suspected in patients with Stiff-person syndrome and new onset paroxysmal episodes. Musicogenic epilepsy may be a manifestation of anti-GAD-Ab spectrum, supporting an autoimmune workup in these patients. Appropriate treatment is not well established, and immunotherapy should be considered in patients with only partial response to antiepileptic drugs. Read More

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http://dx.doi.org/10.1002/ccr3.2538DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6982507PMC
January 2020

Photosensitive Self-Induced Seizures Since Childhood.

Acta Med Port 2019 Jun 18. Epub 2019 Jun 18.

Unidade de Neurologia. Unidade Local de Saúde do Alto Minho. Viana do Castelo. Portugal.

A 15-year-old girl was admitted to the emergency room because of a bilateral tonic-clonic seizure. The family reported that the episode began with rapid hand movements in front of the patient's eyes while staring at the sun. The patient has a history of multiple admissions in the emergency department due to similar events since the age of eight. Read More

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http://dx.doi.org/10.20344/amp.11677DOI Listing

ATP1A3-related epilepsy: Report of seven cases and literature-based analysis of treatment response.

J Clin Neurosci 2020 Feb 17;72:31-38. Epub 2020 Jan 17.

Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Haunersches Childrens Hospital, Ludwig-Maximilian-University of Munich, Germany; Comprehensive Epilepsy Center, Ludwig-Maximilian- University of Munich, Germany; Paracelsus Medical University Salzburg, Salzburg, Austria. Electronic address:

ATP1A3 related disease is a clinically heterogeneous condition currently classified as alternating hemiplegia of childhood, rapid-onset dystonia-parkinsonism and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss. Recently, it has become apparent that a remarkably large subgroup is suffering from often difficult-to-treat epilepsy. The aim of the present study was to assess the prevalence and efficacy of commonly used anti-epileptic-drugs (AEDs) in patients with ATP1A3 related seizures. Read More

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http://dx.doi.org/10.1016/j.jocn.2020.01.041DOI Listing
February 2020

Effect of Temporal Lobe Epilepsy on Auditory-motor Integration for Vocal Pitch Regulation: Evidence from Brain Functional Network Analysis.

Conf Proc IEEE Eng Med Biol Soc 2019 07;2019:3849-3853

Temporal lobe epilepsy (TLE) is a medically refractory focal epilepsy associated with structural deficits. Considerable evidence has revealed that patients with TLE also exhibit deficits in functional connectivity. According to previous research, patients with TLE exhibited decreased performance in speech sound perception and auditory-motor integration for voice control, which might be related to the compromised brain network connectivity. Read More

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http://dx.doi.org/10.1109/EMBC.2019.8856902DOI Listing

Seizures in Epilepsy With Eyelid Myoclonia May Be Provoked by Eye Closure, Not Fixation Removal.

Pediatr Neurol 2020 04 19;105:62-64. Epub 2019 Oct 19.

Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada; Department of Pediatrics, Montreal Children's Hospital, McGill University, Montreal, Quebec, Canada; Department of Neurology and Neurosurgery, Montreal Children's Hospital, McGill University, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1016/j.pediatrneurol.2019.10.001DOI Listing

Acute ischemic stroke following water immersion seizure: a case report.

Turk J Pediatr 2019 ;61(3):453-455

Departments Neurology, Venkateshwar Hospital, Dwarka.

Sing Rana K, Goswami JN, Sareen N. Acute ischemic stroke following water immersion seizure: a case report. Turk J Pediatr 2019; 61: 453-455. Read More

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http://dx.doi.org/10.24953/turkjped.2019.03.023DOI Listing
January 2019

Dravet syndrome: Early electroclinical findings and long-term outcome in adolescents and adults.

Epilepsia 2019 12;60 Suppl 3:S49-S58

Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, member of ERN EpiCare, Milan, Italy.

To describe the outcome of Dravet syndrome (DS) in adolescents and adults we conducted a longitudinal retrospective study of two independent cohorts of 34 adolescents (group 1) and 50 adults (group 2). In both cohorts, we collected information about genetic mutation, and semiology of seizures at onset and during disease course. At the last evaluation, we considered the following features: epilepsy (distinguishing myoclonic/complete and nonmyoclonic/incomplete phenotype), neurologic signs, intellectual disability (ID), and behavioral disorders. Read More

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http://dx.doi.org/10.1111/epi.16297DOI Listing
December 2019

Adolescent behavioral abnormalities in a Scn1a mouse model of Dravet syndrome.

Epilepsy Behav 2020 02 20;103(Pt A):106842. Epub 2019 Dec 20.

Lambert Initiative for Cannabinoid Therapeutics, Brain and Mind Centre, The University of Sydney, Sydney, NSW 2050, Australia; School of Medical Science and Discipline of Pharmacology, The University of Sydney, Sydney, NSW 2006, Australia. Electronic address:

Dravet syndrome is an intractable pediatric epilepsy associated with SCN1A mutations. In addition to having a large seizure burden and a reduced lifespan, patients with Dravet syndrome also exhibit delays in reaching normal developmental milestones in attentional, emotional, and cognitive function. These developmental delays manifest in autistic-like social withdrawal and compulsive behavior. Read More

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http://dx.doi.org/10.1016/j.yebeh.2019.106842DOI Listing
February 2020

Reflex epileptic features in patients with focal epilepsy of unknown cause.

Clin Neurol Neurosurg 2020 Mar 9;190:105633. Epub 2019 Dec 9.

Istanbul University, Istanbul Faculty of Medicine, Departments of Neurology and Clinical Neurophysiology Unit, Istanbul, Turkey.

Objectives: There is a gap of knowledge regarding reflex seizures in patients with focal epilepsy of unknown cause (FEUC). We aimed to evaluate the prevalence, demographic and clinical characteristics of reflex seizures in patients with FEUC to provide an insight to the underlying ictogenic mechanisms and to draw attention to this important but under-investigated topic.

Patients And Methods: After carefully questioning for reflex triggers, 186 patients diagnosed according to ILAE criteria and followed-up for a minimum of 5 years were included. Read More

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http://dx.doi.org/10.1016/j.clineuro.2019.105633DOI Listing

Defecation reflex seizures: a case report with long-term VEEG monitoring, neuroimaging and comprehensive epilepsy evaluation.

Epileptic Disord 2019 Dec;21(6):579-584

Department of Neurosciences and Behavioural Sciences.

Reflex seizures are consistently elicited by a specific afferent sensory stimulus or an activity undertaken by the patient. Among many known stimuli, defecation has rarely been reported. We describe the case of a child with reflex seizures triggered by defecation, considering the diagnostic challenge, epilepsy evaluation with video-EEG monitoring, as well as impact on neuropsychology, behaviour and quality of life. Read More

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http://dx.doi.org/10.1684/epd.2019.1112DOI Listing
December 2019
0.899 Impact Factor

Praxis induction and its relationship with cognition in genetic generalized epilepsy.

Epilepsy Behav 2020 01 2;102:106638. Epub 2019 Dec 2.

Unidad de Epilepsia, Hospital Clínico San Carlos, Calle Profesor Martín Lagos s/n, 28040 Madrid, Spain; Programa de Epilepsia Hospital Ruber Internacional, Madrid, Spain.

Introduction: Praxis induction (PI) is a reflex trait defined as the precipitation of epileptic discharges (ED) or seizures by cognition-guided tasks that often involve visuomotor coordination and decision-making. This is a characteristic of genetic generalized epilepsy (GGE), and especially of juvenile myoclonic epilepsy (JME). Additionally, several studies have described dysexecutive traits in these patients. Read More

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http://dx.doi.org/10.1016/j.yebeh.2019.106638DOI Listing
January 2020

Electroencephalography Findings in Bathing Reflex Epilepsy.

Pediatr Neurol 2020 01 20;102:81. Epub 2019 Sep 20.

Duke University School of Medicine, Durham, North Carolina.

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http://dx.doi.org/10.1016/j.pediatrneurol.2019.08.011DOI Listing
January 2020

A rat model of somatosensory-evoked reflex seizures induced by peripheral stimulation.

Epilepsy Res 2019 11 21;157:106209. Epub 2019 Sep 21.

Montreal Neurological Institute, McConnell Brain Imaging Centre, McGill University, Montreal, QC, H3A 2B4, Canada; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, H3A 2B4, Canada; Department of Physiology, McGill University, Montreal, QC, H3A 2B4, Canada; Department of Biomedical Engineering, McGill University, Montreal, QC, H3A 2B4, Canada. Electronic address:

Objective: We introduce a novel animal model of somatosensory stimulation-induced reflex seizures which generates focal seizures without causing damage to the brain.

Methods: Specifically, we electrically stimulated digits or forepaws of adult rats sedated with dexmedetomidine while imaging cerebral blood volume and recording neurophysiological activity in cortical area S1FL. For the recordings, we either inserted a linear probe into the D3 digit representation or we performed surface electrocorticography (ECoG) recordings. Read More

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http://dx.doi.org/10.1016/j.eplepsyres.2019.106209DOI Listing
November 2019
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Sleep-related hypermotor epilepsy: A prediction cohort study on sleep/awake patterns of seizures.

Epilepsia 2019 11 15;60(11):e115-e120. Epub 2019 Oct 15.

IRCCS, Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.

Sleep-related hypermotor epilepsy (SHE) is characterized by hyperkinetic seizures arising from sleep. Awake seizures occasionally occur and are associated with a worse prognosis, with important implications for driving and quality of life. We evaluated the clinical features and sleep/wakefulness distribution of seizures at onset and lifelong in a large cohort of clinical/confirmed SHE. Read More

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http://dx.doi.org/10.1111/epi.16369DOI Listing
November 2019
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Targeted knockout of GABA-A receptor gamma 2 subunit provokes transient light-induced reflex seizures in zebrafish larvae.

Dis Model Mech 2019 11 11;12(11). Epub 2019 Nov 11.

Research Center of the University of Montreal Hospital Center (CRCHUM), Department of Neurosciences, Université de Montréal, Montréal, QC H2X 0A9, Canada

Epilepsy is a common primary neurological disorder characterized by the chronic tendency of a patient to experience epileptic seizures, which are abnormal body movements or cognitive states that result from excessive, hypersynchronous brain activity. Epilepsy has been found to have numerous etiologies and, although about two-thirds of epilepsies were classically considered idiopathic, the majority of those are now believed to be of genetic origin. Mutations in genes involved in gamma-aminobutyric acid (GABA)-mediated inhibitory neurotransmission have been associated with a broad range of epilepsy syndromes. Read More

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http://dx.doi.org/10.1242/dmm.040782DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6899022PMC
November 2019
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[Clinical features of mah-jong reflex epilepsy].

Zhong Nan Da Xue Xue Bao Yi Xue Ban 2019 Aug;44(8):892-897

Department of Neurology, Third Xiangya Hospital, Central South University, Changsha 410013, China.

Objective: To analyze clinical features of mah-jong reflex epilepsy, and to explore the underlying mechanisms.
 Methods: The clinical data of 15 patient (a study group), who visited in the outpatient department in the Third Xiangya Hospital, Central South University from 2016 to 2018, were collected and analyzed. The clinical data included disease history, 24 h- electroencephalography (EEG) and magnetic resonance imaging (MRI) scan. Read More

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http://dx.doi.org/10.11817/j.issn.1672-7347.2019.190135DOI Listing

[Clinical presentations of Ross syndrome have changed in their lateralities following the anteriotemporal lobectomy for refractory focal epilepsy].

Rinsho Shinkeigaku 2019 Oct 28;59(10):646-651. Epub 2019 Sep 28.

Department of Neurology, Kyoto University Graduate School of Medicine.

We describe a 60-year-old woman with medically refractory left mesial temporal lobe epilepsy accompanied by Ross syndrome. The patient had a partial triad of Ross syndrome with hypohydrosis only on her right side (contralateral to the epileptic seizure focus), Adie's tonic pupil on the right, and areflexia while her seizures used to be medically refractory. However, her hypohidrosis and Adie's tonic pupil have completely changed in terms of laterality following nearly complete seizure freedom resutling from left temporal lobectomy. Read More

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http://dx.doi.org/10.5692/clinicalneurol.cn-001315DOI Listing
October 2019
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[State of the art in musicogenic epilepsy: a review of the scientific literature].

Rev Neurol 2019 Oct;69(7):293-300

Facultad de Medicina. Universidad de Malaga, Malaga, Espana.

Introduction: Musicogenic epilepsy is a type of reflex complex epilepsy and is evoked by musical stimulus, specially music with high emotional content to the patient.

Aim: To review the state of the art of the musicogenic epilepsy in the current literature.

Development: We have made an analysis of all the patients that have been described with musicogenic epilepsy. Read More

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http://dx.doi.org/10.33588/rn.6907.2019229DOI Listing
October 2019
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Limbic Encephalitis following Guillain-Barré Syndrome Associated with Infection.

Case Rep Neurol 2019 Jan-Apr;11(1):17-23. Epub 2019 Jan 24.

Department of Pediatrics, Kyushu Hospital, Japan Community Healthcare Organization, Kitakyushu, Japan.

A 12-year-old girl was admitted to the authors' hospital due to muscle weakness, gait disturbance, dysarthria, dysphagia, and diplopia. She experienced prodromal fever 10 days before admission. On examination, deep tendon reflex was absent in the extremities, and nerve conduction velocity was decreased in the ulnar nerve. Read More

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https://www.karger.com/Article/FullText/496224
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http://dx.doi.org/10.1159/000496224DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6739706PMC
January 2019
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Photosensitive epilepsy and photosensitivity of patients with possible epilepsy in Chinese Han race: A prospective multicenter study.

J Clin Neurosci 2019 Nov 13;69:15-20. Epub 2019 Sep 13.

Department of Neurology, Xijing Hospital, Fourth Military Medical University, Xi'an 710032, PR China. Electronic address:

Photosensitive is probably caused by multiple factors including gender, familiar, etc. We aim to study the clinical and EEG features of Chinese Han patients with photosensitivity. A total of 5482 consecutive patients with possible epilepsy from 3 center in China. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S09675868193011
Publisher Site
http://dx.doi.org/10.1016/j.jocn.2019.08.086DOI Listing
November 2019
2 Reads