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https://www.readbyqxmd.com/read/30114719/htra2-defect-a-recognizable-inborn-error-of-metabolism-with-3-methylglutaconic-aciduria-as-discriminating-feature-characterized-by-neonatal-movement-disorder-and-epilepsy-report-of-11-patients
#1
Reka Kovacs-Nagy, Gilles Morin, Maria Al Nouri, Oliver Brandau, Nebal Waill Saadi, Mohammed A Nouri, Florence van den Broek, Holger Prokisch, Johannes A Mayr, Saskia B Wortmann
Neonatal-onset movement disorders, especially in combination with seizures, are rare and often related to mitochondrial disorders. 3-methylglutaconic aciduria (3-MGA-uria) is a marker for mitochondrial dysfunction. In particular, consistently elevated urinary excretion of 3-methylglutaconic acid is the hallmark of a small but growing group of inborn errors of metabolism (IEM) due to defective phospholipid remodeling or mitochondrial membrane-associated disorders (mutations in TAZ , SERAC1 , OPA3 , CLPB , DNAJC19 , TMEM70 , TIMM50 )...
August 16, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/30113469/cognitive-decline-and-white-matter-changes-in-mesial-temporal-lobe-epilepsy
#2
Shang-Wen Xu, Ji-Hui Xi, Chen Lin, Xiao-Yang Wang, Li-Yuan Fu, Stephen Francis Kralik, Zi-Qian Chen
Noninvasive imaging plays a pivotal role in assessing the brain structural and functional changes in presurgical mesial temporal lobe epilepsy (MTLE) patients. Our goal was to study the relationship between the changes of cerebral white matter (WM) and cognitive functions in MTLE patients.Voxel-based morphometry (VBM) and tract-based spatial statistics (TBSS) MRI were performed on 24 right-handed MTLE patients (12 with left MTLE and 12 with right MTLE) and 12 matching healthy controls. Gray matter (GM), WM, and whole brain (WB) volumes were measured with VBM while fractional anisotropy (FA), mean diffusivity (MD), axial diffusivity (AD), and radial diffusivity (RD) were measured with TBSS...
August 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/30112956/three-cases-of-antibody-lgi1-limbic-encephalitis-and-review-of-literature
#3
Bing-Lei Wang, Jia-Hua Zheng, Yan Li, Zan Yue, Xin Bian, Jian-Hua Shen, Hui-Juan Wang
Antibody-LGI1 limbic encephalitis(LGI1-Ab LE) is an anti-neuronal surface antigen related autoimmune encephalitis, which clinically manifests through memory impairment, faciobrachial dystonic seizures (FBDS), epileptic seizures, behavior disorders, and hyponatremia. Now, we reported three cases of LGI1-Ab LE. The clinical features of our patients presented with memory impairment, epileptic seizures, hyponatremia, and two patients presented with behavior disorders. All serum LGI1 antibodies were positive, whereas one patient LGI1 antibodies of cerebrospinal fluid (CSF) was negative...
August 16, 2018: International Journal of Neuroscience
https://www.readbyqxmd.com/read/30109502/a-contemporary-perspective-on-the-management-of-post-craniotomy-headache-and-pain
#4
REVIEW
Bryan Lutman, Jamie Bloom, Brandon Nussenblatt, Victor Romo
PURPOSE OF REVIEW: This article discusses the etiology and management of post-craniotomy headache and pain. A review of available as well as investigatory treatment modalities is offered, followed by suggestions for optimal management of post-craniotomy headache. RECENT FINDINGS: There is a dearth of evidence-based practice regarding the differential diagnosis, natural history, and management of post-craniotomy headache. The etiology of post-craniotomy headache is typically multifactorial, with patients' medical history, type of craniotomy, and perioperative management all playing a role...
August 14, 2018: Current Pain and Headache Reports
https://www.readbyqxmd.com/read/30108472/expanding-brain-computer-interfaces-for-controlling-epilepsy-networks-novel-thalamic-responsive-neurostimulation-in-refractory-epilepsy
#5
Abhijeet Gummadavelli, Hitten P Zaveri, Dennis D Spencer, Jason L Gerrard
Seizures have traditionally been considered hypersynchronous excitatory events and epilepsy has been separated into focal and generalized epilepsy based largely on the spatial distribution of brain regions involved at seizure onset. Epilepsy, however, is increasingly recognized as a complex network disorder that may be distributed and dynamic. Responsive neurostimulation (RNS) is a recent technology that utilizes intracranial electroencephalography (EEG) to detect seizures and delivers stimulation to cortical and subcortical brain structures for seizure control...
2018: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/30107533/syt1-associated-neurodevelopmental-disorder-a-case-series
#6
Kate Baker, Sarah L Gordon, Holly Melland, Fabian Bumbak, Daniel J Scott, Tess J Jiang, David Owen, Bradley J Turner, Stewart G Boyd, Mari Rossi, Mohammed Al-Raqad, Orly Elpeleg, Dawn Peck, Grazia M S Mancini, Martina Wilke, Marcella Zollino, Giuseppe Marangi, Heike Weigand, Ingo Borggraefe, Tobias Haack, Zornitza Stark, Simon Sadedin, Tiong Yang Tan, Yunyun Jiang, Richard A Gibbs, Sara Ellingwood, Michelle Amaral, Whitley Kelley, Manju A Kurian, Michael A Cousin, F Lucy Raymond
Synaptotagmin 1 (SYT1) is a critical mediator of fast, synchronous, calcium-dependent neurotransmitter release and also modulates synaptic vesicle endocytosis. This paper describes 11 patients with de novo heterozygous missense mutations in SYT1. All mutations alter highly conserved residues, and cluster in two regions of the SYT1 C2B domain at positions Met303 (M303K), Asp304 (D304G), Asp366 (D366E), Ile368 (I368T) and Asn371 (N371K). Phenotypic features include infantile hypotonia, congenital ophthalmic abnormalities, childhood-onset hyperkinetic movement disorders, motor stereotypies, and developmental delay varying in severity from moderate to profound...
August 13, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/30105559/-acute-diseases-of-the-brain-and-heart-a-reciprocal-culprit-victim-relationship
#7
REVIEW
E Egerer, S Siemonsen, F Erbguth
The reciprocal culprit-victim relationship between the brain and the heart leads to dysfunction and damage to the other organ, especially in acute and severe diseases of one of both organs. In addition, both organ systems can be affected by identical systemic processes, e. g., arteriosclerotic changes. Cardiac embolic formation and pumping failure lead to focal cerebral ischemia or global hypoxia. Cerebral diseases leading to cardiac changes are acute cerebrovascular attacks such as cerebral infarction, intracerebral hemorrhage and subarachnoid hemorrhage, as well as epileptic seizures...
August 13, 2018: Medizinische Klinik, Intensivmedizin und Notfallmedizin
https://www.readbyqxmd.com/read/30105300/novel-quantitative-analyses-of-spontaneous-synaptic-events-in-cortical-pyramidal-cells-reveal-subtle-parvalbumin-expressing-interneuron-dysfunction-in-a-knock-in-mouse-model-of-alzheimer-s-disease
#8
Lingxuan Chen, Takashi Saito, Takaomi C Saido, Istvan Mody
Alzheimer's disease (AD) is a neurodegenerative disorder that has become a compelling global public health concern. Besides pathological hallmarks such as extracellular amyloid plaques, intracellular neurofibrillary tangles (NFTs), and loss of neurons and synapses, clinical reports have shown that epileptiform activity, even seizures, can occur early in the disease. Aberrant synaptic and network activities as well as epileptiform discharges have also been observed in various mouse models of AD. The new AppNL-F mouse model is generated by a gene knock-in approach and there are limited studies on basic synaptic properties in AppNL-F mice...
July 2018: ENeuro
https://www.readbyqxmd.com/read/30105118/paroxysmal-movement-disorder-and-epilepsy-caused-by-a-de-novo-truncating-mutation-in-kat6a
#9
Stephanie Efthymiou, Vincenzo Salpietro, Conceicao Bettencourt, Henry Houlden
Mutations in KAT6A encoding a histone acetyltransferase involved in chromatin remodeling and in other genes involved in histone acetylation and/or deacetylation have been implicated in broad phenotypes of congenital and developmental abnormalities. However, limited genotype-phenotype correlations are available for some of the most rare or recently reported genetic disorders related to chromatin dysregulation. We hereby report a de novo truncating mutation in KAT6A (c.3338C > G; p.S1113X) in a young male patient with intellectual disability associated with impaired speech and autistic features, who also presented with infantile seizures and a complex movement disorder phenotype with paroxysmal episodes of abnormal startle responses...
September 2018: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/30103974/distinction-between-anti-vgkc-complex-seropositive-patients-with-and-without-anti-lgi1-caspr2-antibodies
#10
Tianrong Yeo, Zhiyong Chen, Kok Pin Yong, Patricia Yut Wan Wong, Josiah Yui Huei Chai, Kevin Tan
BACKGROUND: To identify clinical and paraclinical differences between anti-voltage-gated potassium channel (VGKC)-complex seropositive patients with and without anti-leucine-rich glioma-inactivated protein 1 (LGI1)/contactin-associated protein-like 2 (CASPR2) antibodies (Abs). METHODS: We performed a retrospective analysis of 50 anti-VGKC-complex seropositive patients from January 2013 to September 2016, and tested them for anti-LGI1/CASPR2 Abs. Comparative analysis was performed between anti-LGI1/CASPR2 seropositive and 'double negative' patients...
August 15, 2018: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/30102074/oxidative-stress-contribution-to-attention-deficit-hyperactivity-disorder-in-children-with-epilepsy
#11
Marwa Elhady, Eman R Youness, Rehab S I Mostafa, Ali Abdel Aziz, Rania Hussein
Children with epilepsy have a high incidence of attention deficit hyperactivity disorder (ADHD). Oxidation stress and disturbed neurotransmitters are suggested mechanisms; however, their role is not fully explored. This study evaluates the association between circulating malondialdehyde as an oxidation stress marker, apelin neuropeptide, and ADHD in children with epilepsy. Fifty children with epilepsy of unknown etiology, of which 25 have ADHD, as well as 35 healthy children were included. Serum levels of malondialdehyde and apelin were estimated...
August 13, 2018: Applied Neuropsychology. Child
https://www.readbyqxmd.com/read/30100981/treatment-and-rehabilitation-outcomes-of-children-affected-with-nodding-syndrome-in-northern-uganda-a-descriptive-case-series
#12
Suzanne Gazda, David Lagoro Kitara
Introduction: Nodding Syndrome (NS) is a neurological disorder affecting children 5-15 years at onset in East Africa. A major criterion for diagnosis is atonic seizure with dorso-ventral "nodding" of the head. Comorbidities include psychological and behavioral abnormalities, malnutrition, cognitive decline, school dropout and other seizure types. We aimed to describe the presentations and rehabilitation outcomes of NS children at Hope for HumaNs (HfH) centre in Gulu from September 2012 to October 2013...
2018: Pan African Medical Journal
https://www.readbyqxmd.com/read/30100084/biallelic-mutations-in-adprhl2-encoding-adp-ribosylhydrolase-3-lead-to-a-degenerative-pediatric-stress-induced-epileptic-ataxia-syndrome
#13
Shereen G Ghosh, Kerstin Becker, He Huang, Tracy D Salazar, Guoliang Chai, Vincenzo Salpietro, Lihadh Al-Gazali, Quinten Waisfisz, Haicui Wang, Keith K Vaux, Valentina Stanley, Andreea Manole, Ugur Akpulat, Marjan M Weiss, Stephanie Efthymiou, Michael G Hanna, Carlo Minetti, Pasquale Striano, Livia Pisciotta, Elisa De Grandis, Janine Altmüller, Peter Nürnberg, Holger Thiele, Uluc Yis, Tuncay Derya Okur, Ayse Ipek Polat, Nafise Amiri, Mohammad Doosti, Ehsan Ghayoor Karimani, Mehran B Toosi, Gabriel Haddad, Mert Karakaya, Brunhilde Wirth, Johanna M van Hagen, Nicole I Wolf, Reza Maroofian, Henry Houlden, Sebahattin Cirak, Joseph G Gleeson
ADP-ribosylation, the addition of poly-ADP ribose (PAR) onto proteins, is a response signal to cellular challenges, such as excitotoxicity or oxidative stress. This process is catalyzed by a group of enzymes referred to as poly(ADP-ribose) polymerases (PARPs). Because the accumulation of proteins with this modification results in cell death, its negative regulation restores cellular homeostasis: a process mediated by poly-ADP ribose glycohydrolases (PARGs) and ADP-ribosylhydrolase proteins (ARHs). Using linkage analysis and exome or genome sequencing, we identified recessive inactivating mutations in ADPRHL2 in six families...
July 25, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/30094525/wwox-associated-encephalopathies-identification-of-the-phenotypic-spectrum-and-the-resulting-genotype-phenotype-correlation
#14
Hepsen Mine Serin, Erdem Simsek, Esra Isik, Sarenur Gokben
Epileptic encephalopathies are a group of disorders in which epileptiform abnormalities cause progressive deterioration in cerebral function. Genetic causes have been described in several of the epileptic encephalopathies, and many previously unknown genes have been identified. WW domain-containing oxidoreductase (WWOX) has recently been implicated in autosomal recessive spinocerebellar ataxia type 12 (SCAR12) and severe early-onset epileptic encephalopathy. With whole-exome sequencing, we identified a homozygous WWOX missense mutation, p...
August 9, 2018: Neurological Sciences
https://www.readbyqxmd.com/read/30094117/syncopal-episodes-of-arrhythmogenic-right-ventricular-cardiomyopathy-in-a-patient-with-pre-existing-seizure-disorder
#15
James R Kimber, Syed Rafay Ali Sabzwari, Hiwot Ayele
Arrhythmogenic right ventricular cardiomyopathy (ARVC), is a heritable condition that is an important, and under-recognized cause of sudden cardiac death. Microscopically, it is represented by fibrofatty replacement of myocardium involving the right ventricular inflow area, apex, and infundibulum. Common clinical manifestations of ARVC include palpitations, syncope, chest pain, dyspnea, and sudden cardiac death. This is a case of a 25-year-old male with a history of thalassemia, and tonic-clonic seizure status post head trauma with cystic encephalomalacia in left parietal lobe who described recurrent syncope...
June 7, 2018: Curēus
https://www.readbyqxmd.com/read/30093950/uremia-induces-upregulation-of-cerebral-tissue-oxidative-inflammatory-cascade-down-regulation-of-nrf2-pathway-and-disruption-of-blood-brain-barrier
#16
Wanghui Jing, Bahman Jabbari, Nosratola D Vaziri
Chronic kidney disease (CKD) results in various central nervous systems (CNS) disorders including cognitive dysfunction, depression, anxiety, movement disorders, seizures and encephalopathy. Uremic retention products, oxidative stress, inflammation and impaired blood-brain barrier have been implicated as the major mediators of CKD-induced CNS disorders. However, mechanisms of CKD-induced cerebral tissue oxidative stress, inflammation and impaired blood brain barrier have not been fully elucidated and were explored...
2018: American Journal of Translational Research
https://www.readbyqxmd.com/read/30092488/leptin-regulated-autophagy-plays-a-role-in-long-term-neurobehavioral-injury-after-neonatal-seizures-and-the-regulation-of-zinc-cpla2-and-camk-ii-signaling-in-cerebral-cortex
#17
Li-Li Li, Ya-Chao Li, Dong-Jing Zhao, Mei-Fang Jin, Hong Ni
Metabolic disorders play an important role in the pathogenesis of many neurological diseases. Recent evidence suggests that leptin levels in peripheral blood and brain are lower in patients with epilepsy. Leptin is an energy-regulating hormone that plays a neuroprotective role in neurodegenerative diseases and brain trauma. However, little is known about the effects and molecular mechanisms of leptin treatment on long-term neurobehavioral impairment caused by developmental seizures. The present study evaluated whether chronic leptin treatment protected against neurobehavioral impairments induced by recurrent seizures in newborns treated with flurothyl...
August 3, 2018: Epilepsy Research
https://www.readbyqxmd.com/read/30091983/diagnostic-value-of-partial-exome-sequencing-in-developmental-disorders
#18
Laura Gieldon, Luisa Mackenroth, Anne-Karin Kahlert, Johannes R Lemke, Joseph Porrmann, Jens Schallner, Maja von der Hagen, Susanne Markus, Sabine Weidensee, Barbara Novotna, Charlotte Soerensen, Barbara Klink, Johannes Wagner, Andreas Tzschach, Arne Jahn, Franziska Kuhlee, Karl Hackmann, Evelin Schrock, Nataliya Di Donato, Andreas Rump
Although intellectual disability is one of the major indications for genetic counselling, there are no homogenous diagnostic algorithms for molecular testing. While whole exome sequencing is increasingly applied, we questioned whether analyzing a partial exome, enriched for genes associated with Mendelian disorders, might be a valid alternative approach that yields similar detection rates but requires less sequencing capacities. Within this context 106 patients with different intellectual disability forms were analyzed for mutations in 4...
2018: PloS One
https://www.readbyqxmd.com/read/30090761/anti-nmdar-encephalitis-in-a-13-year-old-female-a-24-month-clinical-follow-up
#19
Eunsil Kim, Eu Gene Park, Jiwon Lee, Munhyang Lee, Jihye Kim, Jeehun Lee
Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is a rare autoimmune disorder manifesting as seizures, movement disorders, and psychiatric changes. However, there have been few case reports concerning this disorder in South Korean children. The current case report describes a pediatric patient with anti-NMDAR encephalitis. A 13-year-old female patient developed clonic movements of the right arm followed by aphasia, paresthesia, and right-sided hemiparesis. The electroencephalogram (EEG) results indicated electroclinical seizures arising from the left temporal area...
June 2018: Journal of Epilepsy Research
https://www.readbyqxmd.com/read/30090156/epileptic-encephalopathy-and-autism-a-complex-interplay
#20
Ashish H Chepure, Mansi P Somaiya, Alka A Subramanyam, Ravindra K Kamath
Drug-resistant epileptic encephalopathy such as Dravet syndrome presents with autistic symptoms. Three cases with autism spectrum disorder with comorbid Dravet syndrome were assessed. All the cases presented with onset of seizures before a year and with autistic features. The patients responded to a combination of antiepileptic drugs (AEDs), resulting in reduced frequency of seizures and behavioral issues. Contrary to the belief that both epilepsy and use of AEDs have adverse impact on the cognition of children with an early onset of epilepsy, we found improvement in the symptoms of our patients who presented with autism and epilepsy...
April 2018: Journal of Pediatric Neurosciences
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