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https://www.readbyqxmd.com/read/30550952/the-t-type-calcium-channel-antagonist-z944-alters-social-behavior-in-genetic-absence-epilepsy-rats-from-strasbourg
#1
Wendie N Marks, Nadine K Zabder, Stuart M Cain, Terrance P Snutch, John G Howland
Abnormalities in social behavior are a co-morbid symptom of idiopathic generalized epilepsies such as childhood absence epilepsy. The Genetic Absence Epilepsy Rats from Strasbourg (GAERS) model is a spontaneously occurring absence epilepsy phenotype closely correlated to that of human absence epilepsies. Similar to the human conditions, GAERS display social abnormalities. Previous studies have only demonstrated social abnormalities in female GAERS, whereas social problems are observed in male and female patients...
December 11, 2018: Behavioural Brain Research
https://www.readbyqxmd.com/read/30549452/brief-resolved-unexplained-events-retrospective-validation-of-diagnostic-criteria-and-risk-stratification
#2
Marco Colombo, Eliot S Katz, Annalisa Bosco, Maria L Melzi, Luana Nosetti
BACKGROUND AND OBJECTIVES: This study retrospectively evaluated the AAP guidelines for diagnosis and risk stratification of Brief Resolved Unexplained Events (BRUE) in a well-characterized cohort of infants admitted with an Apparent Life Threatening Event (ALTE). Further, using prospective follow-up, we endeavored to determine the safety of implementing ambulatory care for the lower risk BRUE population (LR-BRUE) and estimate the cost-savings of this practice. METHODS: Retrospective application of the BRUE criteria on infants younger than 12 months of age who had been admitted with an ALTE from 2006 to 2016 at a single tertiary care center in Lombardy, Italy...
January 2019: Pediatric Pulmonology
https://www.readbyqxmd.com/read/30549416/gpr126-a-novel-candidate-gene-implicated-in-autosomal-recessive-intellectual-disability
#3
Masoumeh Hosseini, Zohreh Fattahi, Seyedeh Sedigheh Abedini, Hao Hu, Hans-H Ropers, Vera M Kalscheuer, Hossein Najmabadi, Kimia Kahrizi
Intellectual disability (ID), a genetically and clinically heterogeneous disorder, affects 1%-3% of the general population and is a major health problem, especially in developing countries and in populations with a high frequency of consanguineous marriage. Using whole exome sequencing, a homozygous missense variation (c.3264G>C, p.W1088C) in a plausible disease causing gene, GPR126, was identified in two patients presenting with profound ID, severe speech impairment, microcephaly, seizures during infancy, and spasticity accompanied by cerebellar hypoplasia...
December 14, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/30548255/a-study-in-a-polish-ataxia-cohort-indicates-genetic-heterogeneity-and-points-to-mtcl1-as-a-novel-candidate-gene
#4
Magdalena Krygier, Mariusz Kwarciany, Krystyna Wasilewska, Victor Murcia Pienkowski, Natalia Krawczyńska, Daniel Zielonka, Joanna Kosińska, Piotr Stawinski, Monika Rudzińska-Bar, Magdalena Boczarska-Jedynak, Bartosz Karaszewski, Janusz Limon, Jarosław Sławek, Rafał Płoski, Małgorzata Rydzanicz
Inherited ataxias are a group of highly heterogeneous, complex neurological disorders representing a significant diagnostic challenge in clinical practice. We performed next generation sequencing analysis in 10 index cases with unexplained progressive cerebellar ataxia of suspected autosomal recessive inheritance. A definite molecular diagnosis was obtained in 5/10 families and included the following diseases: autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), POLR3B-related hypomyelinating leukodystrophy, primary coenzyme Q10 deficiency type 4, Niemann-Pick disease type C1 and SYNE1-related ataxia...
December 11, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/30546403/surgical-strategy-for-temporal-lobe-epilepsy-with-dual-pathology-and-incomplete-evidence-from-eeg-and-neuroimaging
#5
Lan Luan, Yuqiang Sun, Kang Yang
Coexistence of hippocampal sclerosis (HS) and a temporal neocortical lesion, including focal cortical dysplasia, vascular malformations or benign primary brain tumors, is defined as dual pathology. In the majority of cases, the complete evidence based on electroencephalogram (EEG) and magnetic resonance imaging (MRI) for each of the dual pathological lesions is difficult to obtain. As a result, patients with dual pathology are poor surgical candidates due to potential incomplete resection of the epileptogenic zone...
December 2018: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/30545828/a-17-year-old-boy-with-high-functioning-autism-gastrointestinal-illness-and-seizures
#6
Sakina H Sojar, Joshua S V Goldner, Kalpathy Krishnamoorthy, Sarah A Murphy, Peter T Masiakos, Jean E Klig
A healthy 17-year-old boy with a high-functioning pervasive developmental disorder presented to the emergency department after having a 4-minute episode of seizure-like activity in the setting of presumed viral gastroenteritis. Within an hour of emergency department arrival, he developed a forehead-sparing facial droop, right-sided ptosis, and expressive aphasia, prompting stroke team assessment and urgent neuroimaging. Laboratory results later revealed a serum sodium of 119 mmol/L. Neurologic deficits self-resolved, and a full physical examination revealed diffuse abdominal tenderness in the lower abdomen with rebound tenderness in the right-lower quadrant...
December 13, 2018: Pediatrics
https://www.readbyqxmd.com/read/30542811/arterial-ischemic-stroke-ais-in-childhood-clinical-report-from-a-single-control-center
#7
Anna Portale, Agata Fiumara, Luisa Scalora, Filippo Greco, Pierluigi Smilari, Valeria Venti, Elena Pustorino, Piero Pavone
INTRODUCTION: Stroke is the clinical designation for a rapidly developing loss of brain function due to an interruption in the blood supply to all or part of the brain. It is the third cause of death in adults and one of the top 10 causes in pediatric age. The perinatal period of onset is the second only to adult age group in the incidence of stroke. Arterial ischemic stroke during childhood occurs most frequently in the perinatal period with an incidence of 1 out 2300-5000 live infant births...
December 12, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/30542635/pregabalin-associated-discontinuation-symptoms-a-case-report
#8
Sadiq Naveed, Amber E Faquih, Amna Mohyud Din Chaudhary
Pregabalin is used for the treatment of neuropathic pain, partial seizures, generalized anxiety disorder, social anxiety disorder, and insomnia. The discontinuation symptoms of pregabalin are mild to moderate which resolve in about one week after the discontinuation of pregabalin. This case report describes the withdrawal symptoms in a 62-year-old patient despite a slow titration over a period of several weeks. It highlights the importance of cautious monitoring of withdrawal symptoms during the period of taper...
October 8, 2018: Curēus
https://www.readbyqxmd.com/read/30542208/phenotypic-association-of-15q11-2-cnvs-of-the-region-of-breakpoints-1-2-bp1-bp2-in-a-large-cohort-of-samples-referred-for-genetic-diagnosis
#9
K Naga Mohan, Ye Cao, Justin Pham, Sau Wai Cheung, Lori Hoffner, Z Zishuo Ou, Urvashi Surti, Edwin H Cook, Arthur L Beaudet
In view of conflicting reports on the pathogenicity of 15q11.2 CNVs of the breakpoints 1-2 (BP1-BP2) region and lack of association with a specific phenotype, we collected phenotypic data on 51,462 patients referred for genetic testing at two centers (Magee-Womens Hospital of UPMC and Baylor Genetics Laboratories, Baylor College of Medicine). Using array CGH, 262 patients with deletions and 215 with duplications were identified and tested for their association with four phenotypes (developmental delay, dysmorphic features, autism group of disorders, and epilepsy/seizures)...
December 12, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/30541867/a-synaptic-protein-defect-associated-with-reflex-seizure-disorder
#10
EDITORIAL
Pasquale Striano, Peter Huppke
No abstract text is available yet for this article.
December 12, 2018: Neurology
https://www.readbyqxmd.com/read/30541864/-syngap1-encephalopathy-a-distinctive-generalized-developmental-and-epileptic-encephalopathy
#11
Danique R M Vlaskamp, Benjamin J Shaw, Rosemary Burgess, Davide Mei, Martino Montomoli, Han Xie, Candace T Myers, Mark F Bennett, Wenshu XiangWei, Danielle Williams, Saskia M Maas, Alice S Brooks, Grazia M S Mancini, Ingrid M B H van de Laar, Johanna M van Hagen, Tyson L Ware, Richard I Webster, Stephen Malone, Samuel F Berkovic, Renate M Kalnins, Federico Sicca, G Christoph Korenke, Conny M A van Ravenswaaij-Arts, Michael S Hildebrand, Heather C Mefford, Yuwu Jiang, Renzo Guerrini, Ingrid E Scheffer
OBJECTIVE: To delineate the epileptology, a key part of the SYNGAP1 phenotypic spectrum, in a large patient cohort. METHODS: Patients were recruited via investigators' practices or social media. We included patients with (likely) pathogenic SYNGAP1 variants or chromosome 6p21.32 microdeletions incorporating SYNGAP1 . We analyzed patients' phenotypes using a standardized epilepsy questionnaire, medical records, EEG, MRI, and seizure videos. RESULTS: We included 57 patients (53% male, median age 8 years) with SYNGAP1 mutations (n = 53) or microdeletions (n = 4)...
December 12, 2018: Neurology
https://www.readbyqxmd.com/read/30540932/sh3rf2-haploinsufficiency-leads-to-unilateral-neuronal-development-deficits-and-autistic-like-behaviors-in-mice
#12
Shuo Wang, Ningdong Tan, Xingliang Zhu, Minghui Yao, Yaqing Wang, Xiaohui Zhang, Zhiheng Xu
Autism spectrum disorders (ASDs) include a variety of developmental brain disorders with clinical findings implicating the dysfunction of the left hemisphere. Here, we generate mice lacking one copy of Sh3rf2, which was detected in ASD patients, to determine whether Sh3rf2 is involved in brain development and whether mutation of SH3RF2 is causative for ASD and the mechanisms linking it to ASD traits. We find that mice with Sh3rf2 haploinsufficiency display significant deficits in social interaction and communication, as well as stereotyped or repetitive behaviors and hyperactivity and seizures...
December 11, 2018: Cell Reports
https://www.readbyqxmd.com/read/30539418/atp-synthase-subunit-beta-immunostaining-is-reduced-in-the-sclerotic-hippocampus-of-epilepsy-patients
#13
Marcelo Vilas Boas Mota, Bruna Cunha Zaidan, Amanda Morato do Canto, Enrico Ghizoni, Helder Tedeschi, Luciano de Souza Queiroz, Marina K M Alvim, Fernando Cendes, Iscia Lopes-Cendes, André Almeida Schenka, André Schwambach Vieira, Fabio Rogerio
Epilepsy is a common disease presenting with recurrent seizures. Hippocampal sclerosis (HS) is the commonest histopathological alteration in patients with temporal lobe epilepsy (TLE) undergoing surgery. HS physiopathogenesis is debatable. We have recently studied, by using mass spectrometry-based proteomics, an experimental model of TLE induced by electrical stimulation. Specifically, protein expressions of both the beta subunit of mitochondrial ATP synthase (ATP5B) and of membrane ATPases were found to be reduced...
December 11, 2018: Cellular and Molecular Neurobiology
https://www.readbyqxmd.com/read/30537371/genotype-and-phenotype-correlations-for-shank3-de-novo-mutations-in-neurodevelopmental-disorders
#14
Ying Li, Xiangbin Jia, Huidan Wu, Guanglei Xun, Jianjun Ou, Qiumeng Zhang, Honghui Li, Ting Bai, Zhengmao Hu, Xiaobing Zou, Kun Xia, Hui Guo
SHANK3 has been identified as the causative gene of 22q13.3 microdeletion syndrome phenotype. De novo mutations (DNMs) of SHANK3 were subsequently identified in patients with several neurodevelopmental disorders, including autism spectrum disorders (ASDs), schizophrenia (SCZ), a Rett syndrome-like phenotype, and intellectual disability (ID). Although broad developmental phenotypes of these patients have been described in single studies, few studies have reviewed the genotype and phenotype relationships using a relatively large cohort of patients with SHANK3 DNMs...
December 9, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/30535946/the-complexity-of-neuroinflammation-consequent-to-traumatic-brain-injury-from-research-evidence-to-potential-treatments
#15
REVIEW
Maria Cristina Morganti-Kossmann, Bridgette D Semple, Sarah C Hellewell, Nicole Bye, Jenna M Ziebell
This review recounts the definitions and research evidence supporting the multifaceted roles of neuroinflammation in the injured brain following trauma. We summarise the literature fluctuating from the protective and detrimental properties that cytokines, leukocytes and glial cells play in the acute and chronic stages of TBI, including the intrinsic factors that influence cytokine responses and microglial functions relative to genetics, sex, and age. We elaborate on the pros and cons that cytokines, chemokines, and microglia play in brain repair, specifically neurogenesis, and how such conflicting roles may be harnessed therapeutically to sustain the survival of new neurons...
December 7, 2018: Acta Neuropathologica
https://www.readbyqxmd.com/read/30533527/delineating-foxg1-syndrome-from-congenital-microcephaly-to-hyperkinetic-encephalopathy
#16
Nancy Vegas, Mara Cavallin, Camille Maillard, Nathalie Boddaert, Joseph Toulouse, Elise Schaefer, Tally Lerman-Sagie, Dorit Lev, Barth Magalie, Sébastien Moutton, Eric Haan, Bertrand Isidor, Delphine Heron, Mathieu Milh, Stéphane Rondeau, Caroline Michot, Stephanie Valence, Sabrina Wagner, Marie Hully, Cyril Mignot, Alice Masurel, Alexandre Datta, Sylvie Odent, Mathilde Nizon, Leila Lazaro, Marie Vincent, Benjamin Cogné, Anne Marie Guerrot, Stéphanie Arpin, Jean Michel Pedespan, Isabelle Caubel, Benedicte Pontier, Baptiste Troude, Francois Rivier, Christophe Philippe, Thierry Bienvenu, Marie-Aude Spitz, Amandine Bery, Nadia Bahi-Buisson
Objective: To provide new insights into the FOXG1- related clinical and imaging phenotypes and refine the phenotype-genotype correlation in FOXG1 syndrome. Methods: We analyzed the clinical and imaging phenotypes of a cohort of 45 patients with a pathogenic or likely pathogenic FOXG1 variant and performed phenotype-genotype correlations. Results: A total of 37 FOXG1 different heterozygous mutations were identified, of which 18 are novel. We described a broad spectrum of neurodevelopmental phenotypes, characterized by severe postnatal microcephaly and developmental delay accompanied by a hyperkinetic movement disorder, stereotypes and sleep disorders, and epileptic seizures...
December 2018: Neurology. Genetics
https://www.readbyqxmd.com/read/30532714/medically-unexplained-physical-symptoms-in-hospitalized-patients-a-9-year-retrospective-observational-study
#17
Nicola Poloni, Marta Ielmini, Ivano Caselli, Francesca Ceccon, Lucia Bianchi, Celeste Isella, Camilla Callegari
Introduction: "Medically Unexplained Physical Symptoms" (MUPS) defines a subgroup of patients presenting physical symptoms of unclear origin. The study aims to profile clinical and socio-demographic characteristics of patients with MUPS. Materials and Methods: This 9-years observational retrospective study assesses all patients admitted between 2008 and 2016 in the divisions of neurology and gastroenterology. Socio-demographic and clinical variables were evaluated: gender, age, diagnosis or diagnostic hypothesis, presence of psychiatric comorbidities, psychiatric evaluation, pharmacological treatment, number of admissions/visits...
2018: Frontiers in Psychiatry
https://www.readbyqxmd.com/read/30532329/anesthetic-challenges-in-a-child-with-lowe-s-and-fanconi-syndrome
#18
Shital Digambar Chaudhari, Manpreet Kaur
Oculocerebrorenal syndrome of Lowe is a rare X-linked metabolic disorder complicated by Fanconi's syndrome. Anaesthetic management of Lowe syndrome with Fanconi's syndrome is challenging to the anaesthesiologists in view of difficult airway due to microcephaly, metabolic abnormalities, and risk of peri-operative seizures. We report a successful anaesthetic management of a case of 2-year-old child scheduled for evaluation under anaesthesia following bilateral lens aspiration surgery.
November 2018: Indian Journal of Anaesthesia
https://www.readbyqxmd.com/read/30531098/-depdc5-a-new-key-to-understand-various-epilepsies
#19
Saeko Ishida
Epilepsy is one of the most frequent neurological disorders characterized by spontaneous and recurrent seizures. Most seizures last for the lifetime and the patients require long term therapies. However, about 30% of the patients are refractory to antiepileptic drugs. Therefore, the need for newer and more effective therapies is urgent. Focal epilepsies, in which the abnormal electrical discharges occur within neuronal networks limited to one hemisphere, accounts for about 60% of all adult idiopathic epilepsy cases...
2018: Nihon Yakurigaku Zasshi. Folia Pharmacologica Japonica
https://www.readbyqxmd.com/read/30531097/-function-of-synaptic-vesicle-protein-2a-sv2a-as-a-novel-therapeutic-target-for-epilepsy
#20
Kentaro Tokudome, Saki Shimizu, Tadao Serikawa, Yukihiro Ohno
Epilepsy is a chronic neurologic disease characterized by recurrent seizures, affecting nearly 1% of the population. Synaptic vesicle protein 2A (SV2A) is a membrane protein specifically expressed in synaptic vesicles and is now implicated in the pathogenesis of epileptic disorders. This is because 1) Sv2a-knockout mice exhibit severe seizures, 2) SV2A serves as a specific binding site for certain antiepileptics (e.g., levetiracetam and its analogues) and 3) the SV2A expression changes under various epileptic conditions both in animals (e...
2018: Nihon Yakurigaku Zasshi. Folia Pharmacologica Japonica
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