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Reflex Epilepsy

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

Elena Díaz-Casado, Ricardo Gómez-Nieto, José M de Pereda, Luis J Muñoz, María Jara-Acevedo, Dolores E López,

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 ... Read more >>

PLoS ONE (PloS one)
[2020, 15(3):e0229953]

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

Jean-François Desaphy, Alessandro Farinato, Concetta Altamura, Michela De Bellis, Paola Imbrici, Nancy Tarantino, Carla Caccia, Elsa Melloni, Gloria Padoani, Silvia Vailati, Charlotte Keywood, Maria Rosaria Carratù, Annamaria De Luca, Diana Conte, Sabata Pierno,

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. In addition to MAOB inhibition, safinamide inhibits neuronal sodium channels, conferring ... Read more >>

Exp. Neurol. (Experimental neurology)
[2020, 328:113287]

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Essential Noninvasive Multimodality Neuromonitoring for the Critically Ill Patient.

Frank A Rasulo, Tommaso Togni, Stefano Romagnoli,

This article is one of ten reviews selected from the Annual Update in Intensive Care and Emergency Medicine 2020. Other selected articles can be found online at https://www.biomedcentral.com/collections/annualupdate2020. Further information about the Annual Update in Intensive Care and Emergency Medicine is available from http://www.springer.com/series/8901. ... Read more >>

Crit Care (Critical care (London, England))
[2020, 24(1):100]

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Editorial: Ketogenic Diet in Epilepsy and Associated Comorbidities: Clinical Efficacy and Mechanisms.

Tianfu Li, Jiong Qin, Xiang-Ping Chu,

Front Neurol (Frontiers in neurology)
[2020, 11:66]

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Anatomoelectroclinical features of SEEG-confirmed pure insular-onset epilepsy.

Maria E Peltola, Agnès Trébuchon, Stanislas Lagarde, Didier Scavarda, Romain Carron, Liisa Metsähonkala, Leena Lauronen, Anne Lépine, Nathalie Villeneuve, Fabrice Bartolomei,

PURPOSE:In this study, we aimed to improve our knowledge of insular epilepsy by studying anatomoelectroclinical correlations in pure insular-onset epilepsy and characterizing differences between anterior and posterior insular-onset seizures. METHODS:Patients in whom seizure-onset zone was confined to the insula and peri-insular sulcus were selected from 301 consecutive presurgical stereo-electroencephalography (EEG) ... Read more >>

Epilepsy Behav (Epilepsy & behavior : E&B)
[2020, 105:106964]

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A Case of Hyperekplexia That Started From Childhood: Clinical Diagnosis With Negative Genetic Investigations.

Annibale Antonioni, Giovanni Peschi, Enrico Granieri,

Here, we report the case of a 63-year-old woman affected by abnormal, excessive, and involuntary reactions to harmless and unexpected sensory stimuli, compatible with the diagnosis of hyperekplexia. It is a pathology that involves the glycinergic system on a hereditary basis, and even if genetic proof compatible with the diagnosis ... Read more >>

Front Neurol (Frontiers in neurology)
[2020, 11:10]

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The disappearance of white matter in an adult-onset disease: a case report.

Cyrus Sh Ho, Simone Mangelsdorf, Mark Walterfang,

BACKGROUND:Vanishing white matter disease (VWMD) is one of the most prevalent hereditary white matter diseases in childhood, but it is increasingly recognised in adulthood with high phenotypic variation and severity. CASE PRESENTATION:We report a case of an adult female presenting with emotional lability and cognitive impairment, in addition to progressive ... Read more >>

BMC Psychiatry (BMC psychiatry)
[2020, 20(1):137]

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SCN8A heterozygous variants are associated with anoxic-epileptic seizures.

Emmanuelle Ranza, Werner Z'Graggen, Mathias Lidgren, Maurice Beghetti, Michel Guipponi, Stylianos E Antonarakis, Michael Absoud, Sushma Goyal, Deb K Pal, Christian M Korff,

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, ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, :]

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Micturition reflex epilepsy with tonic seizures - A rare semiology with insights from magnetoencephalography.

Lakshminarayanapuram Gopal Viswanathan, K Bhargava Gautham, Ajay Asranna, Ravindranadh Mundlamuri Chowdary, Aparajita Chatterjee, Raghavendra Kenchaiah, Jitender Saini, Rose Dawn Bharath, Karthik Kulanthaivelu, Sandhya Mangalore, Chandana Nagaraj, Sanjib Sinha,

Seizure (Seizure)
[2020, 76:107-109]

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The Beneficence of Cuddle Therapy in Hyperekplexia: A Case Report.

Jamie Seale, Jennifer Murphy, Ashley Mantle, Belinda Chan,

BACKGROUND:Benevolent injustice occurs when well-intentioned treatment efforts produce an outcome that limits the potential of a patient. The unintended harm can result in significant moral distress for the family and the healthcare team. CLINICAL FINDINGS:We discussed an ethical dilemma regarding a neonate who had suspected seizure and hypoxic-ischemic encephalopathy after ... Read more >>

Adv Neonatal Care (Advances in neonatal care : official journal of the National Association of Neonatal Nurses)
[2020, 20(1):33-37]

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Cerebellar Ataxia Followed by Stiff Person Syndrome in a Patient with Anti-GAD Antibodies.

Sinali O Seneviratne, Katherine A Buzzard, Belinda Cruse, Mastura Monif,

Anti-GAD antibody syndrome is a result of the production of antibodies against glutamic acid decarboxylase (GAD), the main enzyme responsible for the production of gamma-aminobutyric acid (GABA). Several neurological manifestations including cerebellar ataxia and stiff person syndrome have been reported in association with anti-GAD antibodies. In this paper, we present ... Read more >>

Case Reports Immunol (Case reports in immunology)
[2020, 2020:8454532]

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Breastfeeding Behavior in Brazilian Children with Congenital Zika Syndrome.

Alidianne Fábia Cabral Cavalcanti, Yêska Paola Costa Aguiar, Adriana Suely De Oliveira Melo, Alessandro Leite Cavalcanti, Sergio D'Ávila,

Congenital Zika Syndrome (CZS) is a condition that has emerged only recently, bringing together multiple changes, including significant changes in the stomatognathic system, which may compromise sucking behavior and consequently the breastfeeding practice. The aim of this study was to investigate the breastfeeding behaviors in children with CZS. A longitudinal ... Read more >>

(International Journal of Dentistry)
[2020, 2020:]

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Implant-Mediated Therapy of Arterial Hypertension.

Mortimer Gierthmuehlen, Dennis T T Plachta, Josef Zentner,

PURPOSE OF REVIEW:To give an overview on recent developments in permanent implant-based therapy of resistant hypertension. RECENT FINDINGS:The American Heart Association (AHA) recently updated their guidelines to treat high blood pressure (BP). As elevated BP now is defined as a systolic BP above 120 mmHg, the prevalence of hypertension in the ... Read more >>

Curr. Hypertens. Rep. (Current hypertension reports)
[2020, 22(2):16]

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Acute visual impairment as a main presenting symptom of non-convulsive status epilepticus: a case report.

Yi Yang, Shunyuan Zhang, Jinfeng Duan, Xianwen Zhang, Yufeng Tang,

BACKGROUND:Nonconvulsive status epilepticus (NCSE) is a state of ongoing seizure activity without convulsions. The heterogeneous and subtle clinical features of NCSE make diagnosis and treatment challenging. Here, we report a patient with NCSE who showed a main presenting symptom of acute visual impairment, which is a rare and atypical clinical ... Read more >>

BMC Neurol (BMC neurology)
[2020, 20(1):51]

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Phenotypic and genotypic characterization of families with complex intellectual disability identified pathogenic genetic variations in known and novel disease genes.

Hossein Darvish, Luis J Azcona, Abbas Tafakhori, Roxana Mesias, Azadeh Ahmadifard, Elena Sanchez, Arman Habibi, Elham Alehabib, Amir Hossein Johari, Babak Emamalizadeh, Faezeh Jamali, Marjan Chapi, Javad Jamshidi, Yuji Kajiwara, Coro Paisán-Ruiz,

Intellectual disability (ID), which presents itself during childhood, belongs to a group of neurodevelopmental disorders (NDDs) that are clinically widely heterogeneous and highly heritable, often being caused by single gene defects. Indeed, NDDs can be attributed to mutations at over 1000 loci, and all type of mutations, ranging from single ... Read more >>

Sci Rep (Scientific reports)
[2020, 10(1):968]

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Vagus Nerve Stimulation and the Cardiovascular System.

Michael J Capilupi, Samantha M Kerath, Lance B Becker,

The vagus nerve plays an important role in maintaining physiological homeostasis, which includes reflex pathways that regulate cardiac function. The link between vagus nerve activity and the high-frequency component of heart rate variability (HRV) has been well established, correlating with vagal tone. Recently, vagus nerve stimulation (VNS) has been investigated ... Read more >>

Cold Spring Harb Perspect Med (Cold Spring Harbor perspectives in medicine)
[2020, 10(2):]

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The importance of semiological information based on epileptic seizure history.

Peter Wolf, Selim Benbadis, Petia S Dimova, Kollencheri Puthenveettil Vinayan, Rosa Michaelis, Markus Reuber, Elza Márcia Yacubian,

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 ... Read more >>

Epileptic Disord (Epileptic disorders : international epilepsy journal with videotape)
[2020, 22(1):15-31]

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

Sjoukje S Polet, David G Anderson, Lisette H Koens, Martje E van Egmond, Gea Drost, Esther Brusse, Michèl Aap Willemsen, Deborah A Sival, Oebele F Brouwer, Hubertus Ph Kremer, Jeroen J de Vries, Marina Aj Tijssen, Tom J de Koning,

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. Interestingly, the ancestors of patients originate from countries bound to the North Sea, hence the condition was termed North Sea PME (NSPME). Until now, only 20 ... Read more >>

Parkinsonism Relat. Disord. (Parkinsonism & related disorders)
[2020, 72:44-48]

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The Impact of MNRI Therapy on the Levels of Neurotransmitters Associated with Inflammatory Processes.

Tatiana V Tatarinova, Trina Deiss, Lorri Franckle, Susan Beaven, Jeffrey Davis,

The neurotransmitter levels of representatives from five different diagnosis groups were tested before and after participation in the MNRI®-Masgutova Neurosensorimotor Reflex Intervention. The purpose of this study was to ascertain neurological impact on (1) Developmental disorders, (2) Anxiety disorders/OCD (Obsessive Compulsive Disorder), PTSD (Post-Traumatic Stress disorder), (3) Palsy/Seizure disorders, (4) ... Read more >>

Int J Mol Sci (International journal of molecular sciences)
[2020, 21(4):]

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Epilepsy and Hydrocephalus: Should Pyridoxine-Dependent Epilepsy Cross Our Minds?

Shivan Kesavan, Bhanudeep Singanamalla, Dangudubiyyam Sri Krishna Sahitya, Arushi Gahlot Saini, Sameer Vyas,

Ann Indian Acad Neurol (Annals of Indian Academy of Neurology)
[2020, 23(2):239-241]

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

Ai Demura, Yutaka Demura, Makiko Ota, Takayuki Kondo, Masako Kinoshita,

Clin Neurophysiol (Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology)
[2020, 131(4):978-980]

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Instrumented assessment of motor function in dyskinetic cerebral palsy: a systematic review.

Helga Haberfehlner, Marije Goudriaan, Laura A Bonouvrié, Elise P Jansma, Jaap Harlaar, R Jeroen Vermeulen, Marjolein M van der Krogt, Annemieke I Buizer,

BACKGROUND:In this systematic review we investigate which instrumented measurements are available to assess motor impairments, related activity limitations and participation restrictions in children and young adults with dyskinetic cerebral palsy. We aim to classify these instrumented measurements using the categories of the international classification of functioning, disability and health for ... Read more >>

J Neuroeng Rehabil (Journal of neuroengineering and rehabilitation)
[2020, 17(1):39]

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Principles of Electrophysiological Assessments for Movement Disorders.

Kai-Hsiang Stanley Chen, Robert Chen,

Electrophysiological studies can provide objective and quantifiable assessments of movement disorders. They are useful in the diagnosis of hyperkinetic movement disorders, particularly tremors and myoclonus. The most commonly used measures are surface electromyography (sEMG), electroencephalography (EEG) and accelerometry. Frequency and coherence analyses of sEMG signals may reveal the nature of ... Read more >>

J Mov Disord (Journal of movement disorders)
[2020, 13(1):27-38]

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TTTCA Repeat Expansion of SAMD12 in a New Benign Adult Familial Myoclonic Epilepsy Pedigree.

Chaorong Liu, Yanmin Song, Ying Yuan, Ying Peng, Nan Pang, Ranhui Duan, Wen Huang, Xuehui Qin, Wenbiao Xiao, Hongyu Long, Sha Huang, Pinting Zhou, Lili Long, Bo Xiao,

Benign adult familial myoclonic epilepsy (BAFME) is an autosomal dominant disorder characterized by adult-onset cortical myoclonus with or without seizures. Recently, it was reported to be associated with intronic TTTTA/TTTCA expansions. To investigate whether these abnormal expansions are involved in our new pedigree from China, whole exome sequencing (WES) and ... Read more >>

Front Neurol (Frontiers in Neurology)
[2020, 11:68]

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Case of catatonia misdiagnosed with coma.

Rui Fu, Chen Yanfang, Cao Shaohua,

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. Patients show reticence, no food or drink ... Read more >>

Gen Psychiatr (General psychiatry)
[2020, 33(1):e100059]

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