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https://www.readbyqxmd.com/read/28954305/novel-mutations-in-the-nkx2-1-gene-and-the-pax8-gene-in-a-boy-with-brain-lung-thyroid-syndrome
#1
Pia Hermanns, Małgorzata Kumorowicz-Czoch, Helmut Grasberger, Samuel Refetoff, Joachim Pohlenz
Objective To elucidate the molecular mechanism which causes thyroid dysgenesis (TD) in a boy with brain-lung-thyroid syndrome. Design, patients, measurements We describe a patient with TD, respiratory disease and cerebral palsy who is heterozygous for mutations in two different genes, the PAX8 (p.E234K) and the NKX2.1 (p.A329GfsX108). In vitro studies were performed to functionally characterize these mutations. Congenital hypothyroidism (CH) was identified by neonatal screening associated with a hypoplastic thyroid gland...
September 27, 2017: Experimental and Clinical Endocrinology & Diabetes
https://www.readbyqxmd.com/read/28911200/homozygous-eef1a2-mutation-causes-dilated-cardiomyopathy-failure-to-thrive-global-developmental-delay-epilepsy-and-early-death
#2
Siqi Cao, Laura L Smith, Sergio R Padilla-Lopez, Brandon S Guida, Elizabeth Blume, Jiahai Shi, Sarah U Morton, Catherine A Brownstein, Alan H Beggs, Michael C Kruer, Pankaj B Agrawal
Eukaryotic elongation factor 1A (EEF1A), is encoded by two distinct isoforms, EEF1A1 and EEF1A2; whereas EEF1A1 is expressed almost ubiquitously, EEF1A2 expression is limited such that it is only detectable in skeletal muscle, heart, brain and spinal cord. Currently, the role of EEF1A2 in normal cardiac development and function is unclear. There have been several reports linking de novo dominant EEF1A2 mutations to neurological issues in humans. We report a pair of siblings carrying a homozygous missense mutation p...
September 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28872899/two-novel-variants-affecting-cdkl5-transcript-associated-with-epileptic-encephalopathy
#3
Jana Neupauerová, Katalin Štěrbová, Markéta Vlčková, Věra Sebroňová, Tat'ána Maříková, Marcela Krůtová, David Staněk, Pavel Kršek, Markéta Žaliová, Pavel Seeman, Petra Laššuthová
BACKGROUND: Variants in the human X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have been reported as being etiologically associated with early infantile epileptic encephalopathy type 2 (EIEE2). We report on two patients, a boy and a girl, with EIEE2 that present with early onset epilepsy, hypotonia, severe intellectual disability, and poor eye contact. METHODS: Massively parallel sequencing (MPS) of a custom-designed gene panel for epilepsy and epileptic encephalopathy containing 112 epilepsy-related genes was performed...
September 5, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28864458/optimizing-genomic-medicine-in-epilepsy-through-a-gene-customized-approach-to-missense-variant-interpretation
#4
Joshua Traynelis, Michael Silk, Quanli Wang, Samuel F Berkovic, Liping Liu, David B Ascher, David J Balding, Slavé Petrovski
Gene panel and exome sequencing have revealed a high rate of molecular diagnoses among diseases where the genetic architecture has proven suitable for sequencing approaches, with a large number of distinct and highly penetrant causal variants identified among a growing list of disease genes. The challenge is, given the DNA sequence of a new patient, to distinguish disease-causing from benign variants. Large samples of human standing variation data highlight regional variation in the tolerance to missense variation within the protein-coding sequence of genes...
October 2017: Genome Research
https://www.readbyqxmd.com/read/28846756/prevalence-of-pathogenic-copy-number-variation-in-adults-with-pediatric-onset-epilepsy-and-intellectual-disability
#5
Felippe Borlot, Brigid M Regan, Anne S Bassett, D James Stavropoulos, Danielle M Andrade
Importance: Copy number variation (CNV) is an important cause of neuropsychiatric disorders. Little is known about the role of CNV in adults with epilepsy and intellectual disability. Objectives: To evaluate the prevalence of pathogenic CNVs and identify possible candidate CNVs and genes in patients with epilepsy and intellectual disability. Design, Setting, and Participants: In this cross-sectional study, genome-wide microarray was used to evaluate a cohort of 143 adults with unexplained childhood-onset epilepsy and intellectual disability who were recruited from the Toronto Western Hospital epilepsy outpatient clinic from January 1, 2012, through December 31, 2014...
August 28, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28811861/importance-of-distinguishing-between-mitochondrial-encephalomyopathy-with-elderly-onset-of-stroke-like-episodes-and-cerebral-infarction
#6
Syuichi Tetsuka, Asako Tagawa, Tomoko Ogawa, Mieko Otsuka, Ritsuo Hashimoto, Hiroyuki Kato
The most common disease-causing mitochondrial DNA (mtDNA) mutation in mitochondrial encephalomyopathy (ME) with lactic acidosis and stroke-like episodes (MELAS) is m.3243A>G. In the future, the incidence of patients with cerebral infarction and diabetes mellitus is expected to increase tremendously. Additionally, the A3243G mutation typical of diabetes is estimated to be present in approximately 2% of all diabetes patients, which suggests that the potential disease population with a mitochondrial disorder is greater than previously thought, and there may have been many cases among the elderly that were misdiagnosed...
September 2017: Journal of Clinical Medicine Research
https://www.readbyqxmd.com/read/28792706/lack-of-association-between-slc6a11-genetic-polymorphisms-and-drug-resistant-epilepsy-in-chinese-han-population
#7
Y Y Xie, J Qu, L Zhou, N Lv, J E Gong, Y Z Cao, L L Long, H Y Long, B Xiao
BACKGROUND: Epilepsy is one of the most common chronic neurological diseases. A recent study has implicated that the genetic variants of the SLC6A11 gene encoding GAT-3, an astrocytic GABA transporter, may influence the efficacy of antiepileptic drugs (AEDs) in the Korean population. METHODS: This study aims to investigate the possible associations between SLC6A11 gene and drug resistance in Chinese epilepsy patients. Genomic DNA from 240 drug resistant epilepsy (DRE) patients and 336 drug responsive epilepsy patients was tested for the polymorphisms using Illumina GoldenGate assay...
July 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/28777852/-application-of-chromosome-microarray-analysis-in-489-children-with-developmental-delay-intellectual-disability
#8
Rongyue Wang, Tingying Lei, Fang Fu, Ru Li, Xiangyi Jing, Xin Yang, Min Pan, Dongzhi Li, Can Liao
OBJECTIVE: To assess the value of chromosome microarray analysis (CMA) for identifying the etiology of developmental delay/intellectual disability (DD/ID). METHODS: A total of 489 children referred for DD/ID with or without other abnormalities were recruited. All patients showed a normal karyotype. DNA was extracted and hybridized with Affymetrix CytoScan 750K array by following the manufacturer's protocol. The data was analyzed with CHAS v2.0 software. RESULTS: The children were classified as with isolated DD/ID (n=358), DD/ID with epilepsy (n=49), and DD/ID with other structural anomalies (n=82)...
August 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28765170/herpes-simplex-virus-type-1-and-alzheimer-s-disease-possible-mechanisms-and-signposts
#9
REVIEW
Ruth F Itzhaki
Support for the concept that herpes simplex virus type 1 (HSV1), when present in the brains of apolipoprotein E-ε4 carriers, is a major risk for Alzheimer's disease (AD) is increasing steadily, with over 120 publications providing direct or indirect evidence relevant to the hypothesis. No articles have contested the concept, apart from 3 published 13-18 yr ago. This review describes very recent studies on the role of HSV1 but refers also to older studies that provide background for some lesser-known related topics not covered in other recent reviews; these include the relevance of herpes simplex encephalitis and of epilepsy to AD, the action of IFN, and the possible relevance of the different types of DNA damage to AD-in particular, those caused by HSV1-and mechanisms of repair of damage...
August 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28703446/paroxysmal-dyskinesia-in-border-terriers-clinical-epidemiological-and-genetic-investigations
#10
Q E M Stassen, L L E Koskinen, F G van Steenbeek, E H Seppälä, T S Jokinen, P G M Prins, H G J Bok, M M J M Zandvliet, M Vos-Loohuis, P A J Leegwater, H Lohi
BACKGROUND: In the last decade, a disorder characterized by episodes of involuntary movements and dystonia has been recognized in Border Terriers. OBJECTIVES: To define clinical features of paroxysmal dyskinesia (PD) in a large number of Border Terriers and to study the genetics of the disease. ANIMALS: 110 affected and 128 unaffected client-owned Border Terriers. METHODS: A questionnaire regarding clinical characteristics of PD was designed at Utrecht University and the University of Helsinki...
July 2017: Journal of Veterinary Internal Medicine
https://www.readbyqxmd.com/read/28675562/innate-and-adaptive-immunity-in-human-epilepsies
#11
REVIEW
Jan Bauer, Albert J Becker, Wassim Elyaman, Jukka Peltola, Stephan Rüegg, Maarten J Titulaer, James A Varley, Ettore Beghi
Inflammatory mechanisms have been increasingly implicated in the origin of seizures and epilepsy. These mechanisms are involved in the genesis of encephalitides in which seizures are a common complaint. Experimental and clinical evidence suggests different inflammatory responses in the brains of patients with epilepsy depending on the etiology. In general, activation of both innate and adaptive immunity plays a role in refractory forms of epilepsy. Epilepsies in which seizures develop after infiltration of cells of the adaptive immune system in the central nervous system (CNS) include a broad range of epileptic disorders with different (known or unknown) etiologies...
July 2017: Epilepsia
https://www.readbyqxmd.com/read/28667867/autophagy-related-protein-expression-was-associated-with-braf-v600e-mutation-in-epilepsy-associated-glioneuronal-tumors
#12
Chun-Hong Shen, Yin-Xi Zhang, Jin-Hong Xu, Qiong-Bin Zhu, Jun-Ming Zhu, Yi Guo, Yao Ding, Shuang Wang, Mei-Ping Ding
PURPOSE: The aim of this study was to explore the expression level of autophagy-related proteins in epileptic patients with glioneuronal tumors (GNTs) and evaluate the association with clinicopathological features. MATERIALS AND METHODS: We obtained the brain specimens from 33 patients with GNTs, including 22 gangliogliomas (GGs) and 11 dysembryoplastic neuroepithelial tumors (DNTs). The expression of two autophagy-related proteins (LC3B and Beclin-1) was evaluated by immunohistochemistry, and BRAF V600E mutation was examined by DNA sequencing...
June 12, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28659543/sox2-nonsense-mutation-in-a-patient-clinically-diagnosed-with-non-syndromic-hypogonadotropic-hypogonadism
#13
Hirohito Shima, Akira Ishii, Yasunori Wada, Junya Kizawa, Tadashi Yokoi, Noriyuki Azuma, Yoichi Matsubara, Erina Suzuki, Akie Nakamura, Satoshi Narumi, Maki Fukami
Hypogonadotropic hypogonadism (HH) is a genetically heterogeneous condition that occurs either as an isolated disorder or as a component of congenital malformation syndromes. SOX2 is a causative gene of syndromic HH characterized by anophthalmia, microphthalmia, or coloboma and other neurological defects such as epilepsy. To date, the causal relationship between SOX2 abnormalities and non-syndromic HH remains speculative. Here, we identified a nonsense mutation of SOX2 in a male patient clinically diagnosed with non-syndromic HH...
June 28, 2017: Endocrine Journal
https://www.readbyqxmd.com/read/28611277/association-of-rasgrf1-methylation-with-epileptic-seizures
#14
Xiaoni Chen, Xi Peng, Liang Wang, Xinwei Fu, Ji Xiu Zhou, Binglin Zhu, Jing Luo, Xuefeng Wang, Zheng Xiao
DNA methylation, one of the mechanisms of epigenetic regulation, has been suggested to be related with epilepsy. RASgrf1 is a paternally imprinted gene and has a differentially methylated region (DMR) at the promoter that can silence gene expression. We have previously observed the down-regulation of RASgrf1 in the temporal neocortex of epilepsy patients and in the hippocampus of epileptic animals. Here, we further explored the dynamic change (1-day acute period, 10-day latent period and 45-day chronic phase) of DNA methylation and RASgrf1 expression after acute epileptic seizures in kainic acid (KA)-treated mice, and we observed the impact of N-phthalyl-L-tryptophan (RG108), a DNA methyltransferase (DNMT) inhibitor, on an acute epileptic model by polymerase chain reaction (PCR), western blotting, and bisulfite sequencing PCR (BSP)...
July 11, 2017: Oncotarget
https://www.readbyqxmd.com/read/28608314/polymorphism-of-the-multidrug-resistance-1-gene-mdr1-g2677t-a-rs2032582-and-the-risk-of-drug-resistant-epilepsy-in-the-polish-adult-population
#15
Beata Smolarz, Dominik Skalski, Andrzej Rysz, Andrzej Marchel, Hanna Romanowicz, Marianna Makowska
The aim of this study was to analyse the frequency of genotypes and alleles of single-nucleotide polymorphism (SNP)-G2677T/A (rs2032582) of MDR1 gene and to investigate the significance this genetic variation exerts on drug-resistant epilepsy (DRE) in the Polish adult population. The study comprised 340 patients treated for DRE and 240 patients treated for drug-responsive epilepsy. Three hundred and sixty disease-free individuals were used as controls. Genomic DNA was isolated, and the SNP G2677T/A of MDR1 was determined by High-Resolution Melter technique...
June 12, 2017: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/28607632/mitochondrial-transfer-from-wharton-s-jelly-mesenchymal-stem-cell-to-merrf-cybrid-reduces-oxidative-stress-and-improves-mitochondrial-bioenergetics
#16
Yao-Chung Chuang, Chia-Wei Liou, Shang-Der Chen, Pei-Wen Wang, Jiin-Haur Chuang, Mao-Meng Tiao, Te-Yao Hsu, Hung-Yu Lin, Tsu-Kung Lin
Myoclonus epilepsy associated with ragged-red fibers (MERRF) is a maternally inherited mitochondrial disease affecting neuromuscular functions. Mt.8344A>G mutation in mitochondrial DNA (mtDNA) is the most common cause of MERRF syndrome and has been linked to an increase in reactive oxygen species (ROS) level and oxidative stress, as well as impaired mitochondrial bioenergetics. Here, we tested whether WJMSC has therapeutic potential for the treatment of MERRF syndrome through the transfer of mitochondria...
2017: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/28521807/case-report-a-novel-frameshift-mutation-in-the-mitochondrial-cytochrome-c-oxidase-ii-gene-causing-mitochondrial-disorder
#17
Laura Kytövuori, Mikko Kärppä, Hannu Tuominen, Johanna Uusimaa, Markku Saari, Reetta Hinttala, Kari Majamaa
BACKGROUND: Mitochondrial cytochrome c oxidase 2, MT-CO2, encodes one of the three subunits, which form the catalytic core of cytochrome c oxidase (COX), complex IV. Mutations in MT-CO2 are rare and the associated phenotypes are variable including nonsyndromic and syndromic forms of mitochondrial diseases. CASE PRESENTATION: We describe a 30-year-old man with cognitive decline, epilepsy, psychosis, exercise intolerance, sensorineural hearing impairment, retinitis pigmentosa, cataract and lactic acidosis...
May 18, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28487795/sequence-and-timing-of-intracranial-changes-in-cytomegalovirus-in-pregnancy-a-case-report-and-literature-review
#18
Cynthia O'Sullivan, Shankari Arulkumaran, Lorin Lakasing, Eric Jauniaux, Karl Murphy
Cytomegalovirus (CMV) is the most common cause of intrauterine infection, occurring in up to 2% of all live births. Most women are asymptomatic or experience nonspecific symptoms, which can lead to long-term sequelae in newborns including neurological impairment, hearing loss, and mental retardation. A 41-year-old woman (G6 P2), with a medical history of epilepsy, presented for her routine anomaly scan at 20 + 4/40. A single finding of echogenic bowel was noted on ultrasound which prompted a full investigation...
2017: Case Reports in Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28480171/pathogenicity-in-polg-syndromes-dna-polymerase-gamma-pathogenicity-prediction-server-and-database
#19
Anssi Nurminen, Gregory A Farnum, Laurie S Kaguni
DNA polymerase gamma (POLG) is the replicative polymerase responsible for maintaining mitochondrial DNA (mtDNA). Disorders related to its functionality are a major cause of mitochondrial disease. The clinical spectrum of POLG syndromes includes Alpers-Huttenlocher syndrome (AHS), childhood myocerebrohepatopathy spectrum (MCHS), myoclonic epilepsy myopathy sensory ataxia (MEMSA), the ataxia neuropathy spectrum (ANS) and progressive external ophthalmoplegia (PEO). We have collected all publicly available POLG-related patient data and analyzed it using our pathogenic clustering model to provide a new research and clinical tool in the form of an online server...
June 2017: BBA Clinical
https://www.readbyqxmd.com/read/28471437/the-clinical-spectrum-and-natural-history-of-early-onset-diseases-due-to-dna-polymerase-gamma-mutations
#20
Omar Hikmat, Charalampos Tzoulis, Wui K Chong, Latifa Chentouf, Claus Klingenberg, Carl Fratter, Lucinda J Carr, Prab Prabhakar, Nandhini Kumaraguru, Paul Gissen, J Helen Cross, Thomas S Jacques, Jan-Willem Taanman, Laurence A Bindoff, Shamima Rahman
PurposeMutations in POLG, the most common single-gene cause of inherited mitochondrial disease, are diagnostically challenging owing to clinical heterogeneity and overlap between syndromes. We aimed to improve the clinical recognition of POLG-related disorders in the pediatric population.MethodsWe performed a multinational, phenotype: genotype study using patients from three centers, two Norwegian and one from the United Kingdom. Patients with age at onset <12 years and confirmed pathogenic biallelic POLG mutations were considered eligible...
May 4, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
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