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Asl and epilepsy

Mohamed Almuqbil, Michael J Rivkin, Masanori Takeoka, Edward Yang, Lance H Rodan
GLUT1 deficiency syndrome (GLUT1DS) is a well described neurometabolic disorder that results from impaired glucose transport into the central nervous system. GLUT1DS classically presents with infantile-onset epilepsy, progressive microcephaly, developmental delay, ataxia, dystonia, and spasticity, but a minority of patients may manifest with paroxysmal non-epileptic phenomena including hemiparesis (Wang et al., 2002). We report for the first time cerebral perfusion changes during an acute episode of hemiparesis in a 9 year old child with GLUT1DS...
May 2018: European Journal of Paediatric Neurology: EJPN
Kailas D Sonawane, Asmita S Kamble, Prayagraj M Fandilolu
Deficiency of 5-taurinomethyl-2-thiouridine, τm5 s2 U at the 34th 'wobble' position in tRNALys causes MERRF (Myoclonic Epilepsy with Ragged Red Fibers), a neuromuscular disease. This modified nucleoside of mt tRNALys , recognizes AAA/AAG codons during protein biosynthesis process. Its preference to identify cognate codons has not been studied at the atomic level. Hence, multiple MD simulations of various molecular models of anticodon stem loop (ASL) of mt tRNALys in presence and absence of τm5 s2 U34 and N6 -threonylcarbamoyl adenosine (t6 A37 ) along with AAA and AAG codons have been accomplished...
December 27, 2017: Journal of Biomolecular Structure & Dynamics
Savith Kumar, Chinmay P Nagesh, Bejoy Thomas, Ashalatha Radhakrishnan, Ramshekhar N Menon, Chandrasekharan Kesavadas
BACKGROUND AND PURPOSE: The study evaluated the utility of arterial spin labeling (ASL) perfusion imaging in Rasmussen's encephalitis (RE). MATERIAL AND METHODS: The hospital electronic database was searched using the search words "encephalitis," "autoimmune encephalitis" and "Rasmussen's encephalitis" for the period of 1 Jan 2015 to 31 Jan 2017. Clinically diagnosed cases of RE for which epilepsy protocol magnetic resonance imaging (MRI) with perfusion imaging (ASL) performed on a 3T scanner were retrieved...
February 2018: Journal of Neuroradiology. Journal de Neuroradiologie
Julien Baruteau, Elisabeth Jameson, Andrew A Morris, Anupam Chakrapani, Saikat Santra, Suresh Vijay, Huriye Kocadag, Clare E Beesley, Stephanie Grunewald, Elaine Murphy, Maureen Cleary, Helen Mundy, Lara Abulhoul, Alexander Broomfield, Robin Lachmann, Yusof Rahman, Peter H Robinson, Lesley MacPherson, Katharine Foster, W Kling Chong, Deborah A Ridout, Kirsten McKay Bounford, Simon N Waddington, Philippa B Mills, Paul Gissen, James E Davison
OBJECTIVES: This UK-wide study defines the natural history of argininosuccinic aciduria and compares long-term neurological outcomes in patients presenting clinically or treated prospectively from birth with ammonia-lowering drugs. METHODS: Retrospective analysis of medical records prior to March 2013, then prospective analysis until December 2015. Blinded review of brain MRIs. ASL genotyping. RESULTS: Fifty-six patients were defined as early-onset (n = 23) if symptomatic < 28 days of age, late-onset (n = 23) if symptomatic later, or selectively screened perinatally due to a familial proband (n = 10)...
May 2017: Journal of Inherited Metabolic Disease
Iván Sánchez Fernández, Jurriaan M Peters, Alireza Akhondi-Asl, Jacquelyn Klehm, Simon K Warfield, Tobias Loddenkemper
PURPOSE: To test whether patients with Electrical Status Epilepticus in Sleep (ESES) and normal neuroimaging have a smaller thalamic volume than expected for age and for total brain volume. METHODS: Case-control study comparing three groups of subjects of 4-14 years of age and normal magnetic resonance imaging: 1) ESES patients, 2) patients with refractory epilepsy control group, and 3) healthy controls. Thalamic and total brain volumes were calculated using an algorithm for automatic segmentation and parcellation of magnetic resonance imaging...
February 2017: Epilepsy Research
Zahra Faridkia, Parichehr Yaghmaei, Marjan Nassiri-Asl
BACKGROUND: In humans, convulsive diseases such as temporal lobe epilepsy are usually accompanied by learning and memory impairments. In recent years, the role of gap junction channels as an important target of antiepileptic drugs has been studied and discussed. Quinine, as a gap junction blocker of connexin 36, can abolish ictal epileptiform activity in brain slices. OBJECTIVES: The role of quinine in memory retrieval in pentylenetetrazole (PTZ)-kindled rats was examined using a step-through passive avoidance task...
September 2016: Iranian Red Crescent Medical Journal
Takafumi Shimogawa, Takato Morioka, Tetsuro Sayama, Sei Haga, Yuka Kanazawa, Kei Murao, Shuji Arakawa, Ayumi Sakata, Koji Iihara
BACKGROUND: In the diagnosis of nonconvulsive status epilepticus (NCSE), capture of ongoing ictal electroencephalographic (EEG) findings is the gold standard; however, this is practically difficult without continuous EEG monitoring facilities. Magnetic resonance imaging (MRI), including diffusion-weighted imaging (DWI) and perfusion MRI with arterial spin labeling (ASL), have been applied mainly in emergency situations. Recent reports have described that ictal MRI findings, including ictal hyperperfusion on ASL and cortical hyperintensity of cytotoxic edema on DWI, can be obtained from epileptically activated cortex...
January 2017: Epilepsy Research
Daichi Sone, Masako Watanabe, Miho Ota, Yukio Kimura, Atsuhiko Sugiyama, Tomoko Maekawa, Mariko Okura, Mikako Enokizono, Etsuko Imabayashi, Noriko Sato, Hiroshi Matsuda
PURPOSE: The aim of this study was to investigate interictal cerebral blood flow (CBF) distributions and graph theoretical networks in idiopathic generalized epilepsy (IGE) using arterial spin labeling (ASL) imaging and anatomical covariance methods of graph theoretical analysis. MATERIAL AND METHODS: We recruited 19 patients with IGE and 19 age-/gender-matched healthy controls. Their CBF images were obtained by pseudo-continuous ASL imaging and compared using statistical parametric mapping 8 software (SPM8) and Graph Analysis Toolbox (GAT)...
January 2017: Epilepsy Research
Taghi Naserpour Farivar, Marjan Nassiri-Asl, Pouran Johari, Reza Najafipour, Farid Hajiali
INTRODUCTION: Kainic acid (KA) induces neuropathological changes in specific regions of the mouse hippocampus comparable to changes seen in patients with chronic temporal lobe epilepsy (TLE). According to different studies, the expression of a number of genes are altered in the adult rat hippocampus after status epilepticus (SE) induced by KA. This study aimed to quantitatively evaluate changes in the gene expression of brain neurotransmitter receptors one week after administration of kainic acid in the mouse hippocampus...
October 2016: Basic and Clinical Neuroscience
Sven Haller, Greg Zaharchuk, David L Thomas, Karl-Olof Lovblad, Frederik Barkhof, Xavier Golay
Arterial spin labeling (ASL) is a magnetic resonance (MR) imaging technique used to assess cerebral blood flow noninvasively by magnetically labeling inflowing blood. In this article, the main labeling techniques, notably pulsed and pseudocontinuous ASL, as well as emerging clinical applications will be reviewed. In dementia, the pattern of hypoperfusion on ASL images closely matches the established patterns of hypometabolism on fluorine 18 fluorodeoxyglucose (FDG) positron emission tomography (PET) images due to the close coupling of perfusion and metabolism in the brain...
November 2016: Radiology
Rebecca D Ganetzky, Emma Bedoukian, Matthew A Deardorff, Can Ficicioglu
Argininosuccinic acid lyase (ASL) deficiency, caused by mutations in the ASL gene (OMIM: 608310) is a urea cycle disorder that has pleiotropic presentations. On the mild end, ASL deficiency can manifest as nonspecific neurocognitive abnormalities without readily identifiable signs to differentiate it from other causes of intellectual disability or learning disabilities. Dietary management and arginine supplementation, if initiated early, may ameliorate symptoms.Because of the nonspecific nature of the symptoms and the possibility for therapeutic management, ASL deficiency is part of the recommended uniform screening panel for newborn screening in the USA...
2017: JIMD Reports
Keita Kuya, Shinya Fujii, Fuminori Miyoshi, Koyo Ohno, Yuki Shinohara, Yoshihiro Maegaki, Toshihide Ogawa
A 1-year-old boy was admitted because of febrile status epilepticus (FSE). A secondary cluster of seizures was seen on day 5 after onset, and the patient eventually displayed developmental delay. Conventional magnetic resonance imaging (MRI) showed no abnormal findings on day 1 after onset, but showed reduced diffusion in the subcortical regions of bilateral frontal lobes on day 5 after onset. Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) was diagnosed. Arterial spin labeling (ASL) revealed reduced cerebral blood flow (CBF) in bilateral frontal lobes on day 1 after onset and showed increased CBF in the corresponding region in the subacute phase...
January 2017: Brain & Development
Sahar Moghbelinejad, Zahra Rashvand, Fatemeh Khodabandehloo, Ghazaleh Mohammadi, Marjan Nassiri-Asl
OBJECTIVES: Quercetin is a flavonoid and an important dietary constituent of fruits and vegetables. In recent years, several pharmacological activities of quercetin, such as its neuroprotective activity and, more specifically, its anti-convulsant effects in animal models of epilepsy, have been reported. This study evaluated the role of quercetin pretreatment on gene expression of γ-amino butyric acid type A (GABAA) receptor beta subunits in kainic acid (KA)-induced seizures in mice. METHODS: The animals were divided into four groups: one saline group, one group in which seizures were induced by using KA (10 mg/kg) without quercetin pretreatment and two groups pretreated with quercetin (50 and 100 mg/kg) prior to seizures being induced by using KA...
June 2016: Journal of Pharmacopuncture
Guangxiang Chen, Du Lei, Jiechuan Ren, Panli Zuo, Xueling Suo, Danny J J Wang, Meiyun Wang, Dong Zhou, Qiyong Gong
The cerebral haemodynamic status of idiopathic generalized epilepsy (IGE) is a very complicated process. Little attention has been paid to cerebral blood flow (CBF) alterations in IGE detected by arterial spin labelling (ASL) perfusion magnetic resonance imaging (MRI). However, the selection of an optimal delay time is difficult for single-delay ASL. Multi-delay multi-parametric ASL perfusion MRI overcomes the limitations of single-delay ASL. We applied multi-delay multi-parametric ASL perfusion MRI to investigate the patterns of postictal cerebral perfusion in IGE patients with absence seizures...
2016: Scientific Reports
Sunay Usluer, Seda Salar, Mutluay Arslan, Uluç Yiş, Bülent Kara, Pınar Tektürk, Betül Baykan, Cihan Meral, Dilşad Türkdoğan, Nerses Bebek, Özlem Yalçın Çapan, Aslı Gündoğdu Eken, S Hande Çağlayan
PURPOSE: The SCN1A gene is one of the most commonly mutated human epilepsy genes associated with a spectrum of phenotypes with variable degrees of severity. Despite over 1200 distinct mutations reported, it is still hard to draw clear genotype-phenotype relationships, since genetic and environmental modifiers contribute to the development of a particular disease caused by an SCN1A mutation. We aimed to initiate mutational screening of the SCN1A gene in Turkey and advance further our understanding of the relationship between the SCN1A sequence alterations and disease phenotypes such as GEFS+, DS and related epileptic encephalopathies...
July 2016: Seizure: the Journal of the British Epilepsy Association
Ilaria Boscolo Galazzo, Maria Vittoria Mattoli, Francesca Benedetta Pizzini, Enrico De Vita, Anna Barnes, John S Duncan, Hans Rolf Jäger, Xavier Golay, Jamshed B Bomanji, Matthias Koepp, Ashley M Groves, Francesco Fraioli
The major challenge in pre-surgical epileptic patient evaluation is the correct identification of the seizure onset area, especially in MR-negative patients. In this study, we aimed to: (1) assess the concordance between perfusion, from ASL, and metabolism, from (18)F-FDG, acquired simultaneously on PET/MR; (2) verify the utility of a statistical approach as supportive diagnostic tool for clinical readers. Secondarily, we compared (18)F-FDG PET data from the hybrid PET/MR system with those acquired with PET/CT, with the purpose of validate the reliability of (18)F-FDG PET/MR data...
2016: NeuroImage: Clinical
N Taheri, A Kachenoura, K Ansari-Asl, A Karfoul, L Senhadji, L Albera, I Merlet
High-density electroencephalographic recordings have recently been proved to bring useful information during the pre-surgical evaluation of patients suffering from drug-resistant epilepsy. However, these recordings can be particularly obscured by noise and artifacts. This paper focuses on the denoising of dense-array EEG data (e.g. 257 channels) contaminated with muscle artifacts. In this context, we compared the efficiency of several Independent Component Analysis (ICA) methods, namely SOBI, SOBIrob, PICA, InfoMax, two different implementations of FastICA, COM2, ERICA, and SIMBEC, as well as that of Canonical Correlation Analysis (CCA)...
2015: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
Kayo Wakisaka, Takato Morioka, Takafumi Shimogawa, Kei Murao, Yuka Kanazawa, Noriko Hagiwara, Shuji Arakawa
BACKGROUND: The hemodynamic state of the posterior dominant vasogenic edema in posterior reversible encephalopathy syndrome (PRES) is controversial. The aim of this retrospective study was to examine the contribution of epileptic ictal hyperperfusion in patients with PRES using combined magnetic resonance perfusion imaging with arterial spin labeling (ASL) and diffusion-weighted magnetic resonance imaging (MRI). METHODS: A detailed review of chronological MRI findings in 2 patients, including diffusion-weighted imaging (DWI) and ASL, with special reference to clinical and electroencephalographic findings, was performed...
January 2016: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
Keita Matsuura, Masayuki Maeda, Keisuke Okamoto, Tomohiro Araki, Yoichi Miura, Kazuhide Hamada, Kenji Kanamaru, Hidekazu Tomimoto
PURPOSE: Arterial spin-labeling (ASL) perfusion MRI, a noninvasive method of assessing cerebral blood flow, is becoming a diagnostic tool of epilepsy. This study was undertaken to evaluate the diagnostic validity of ASL in patients with status epilepticus (SE) in a periictal state. METHOD: Twenty cases with SE were studied. Patients were imaged at a 3T MRI including ASL and diffusion-weighted imaging (DWI), and were also examined using electroencephalography (EEG)...
December 15, 2015: Journal of the Neurological Sciences
Martha F Hanby, Sarah Al-Bachari, Fadiyah Makin, Rishma Vidyasagar, Laura M Parkes, Hedley C A Emsley
Late-onset epilepsy (LOE), with onset after 50 years of age, is often attributed to underlying occult cerebrovascular disease. LOE is associated with a three-fold increase in subsequent stroke risk, therefore it is important to improve our understanding of pathophysiology. In this exploratory study, we aimed to determine whether established structural magnetic resonance imaging markers and novel physiological imaging markers of occult cerebrovascular disease were more common in patients with LOE than age-matched controls...
2015: NeuroImage: Clinical
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