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Epilepsy genetics

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https://www.readbyqxmd.com/read/29045977/-clinical-and-genetic-characteristics-of-williams-beuren-syndrome-2-cases-report
#1
S Q Wang, Z X Yang, H Li
To explore the clinical and genetic characteristics of Williams-Beuren syndrome (WBS) and to raise awareness of the disease. The characteristics of clinical manifestations, personal history, cardiac ultrasound, brain magnetic resonance imaging (MRI), electroencephalogram (EEG) and chromosome detection results of two cases with WBS were analyzed. The two patients were both male and the age was 11 months and 1 day, and 9 months and 9 days, respectively. They both suffered from cardiovascular malformation: case one presented supravalvular aortic stenosis, and case two showed atrial septal defect and patent ductus arteriosus...
October 18, 2017: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/29045836/arc-requires-psd95-for-assembly-into-postsynaptic-complexes-involved-with-neural-dysfunction-and-intelligence
#2
Esperanza Fernández, Mark O Collins, René A W Frank, Fei Zhu, Maksym V Kopanitsa, Jess Nithianantharajah, Sarah A Lemprière, David Fricker, Kathryn A Elsegood, Catherine L McLaughlin, Mike D R Croning, Colin Mclean, J Douglas Armstrong, W David Hill, Ian J Deary, Giulia Cencelli, Claudia Bagni, Menachem Fromer, Shaun M Purcell, Andrew J Pocklington, Jyoti S Choudhary, Noboru H Komiyama, Seth G N Grant
Arc is an activity-regulated neuronal protein, but little is known about its interactions, assembly into multiprotein complexes, and role in human disease and cognition. We applied an integrated proteomic and genetic strategy by targeting a tandem affinity purification (TAP) tag and Venus fluorescent protein into the endogenous Arc gene in mice. This allowed biochemical and proteomic characterization of native complexes in wild-type and knockout mice. We identified many Arc-interacting proteins, of which PSD95 was the most abundant...
October 17, 2017: Cell Reports
https://www.readbyqxmd.com/read/29045812/facial-emotion-perception-in-patients-with-epilepsy-a-systematic-review-with-meta-analysis
#3
REVIEW
Michelle Edwards, Elizabeth Stewart, Romina Palermo, Suncica Lah
Facial emotion perception is a fundamental social competency relying on a specialised, yet distributed, neural network. This review aimed to determine whether patients with epilepsy have facial emotion perception accuracy impairments overall, or for a subset of emotions (anger, disgust, happiness, sadness, fear, and surprise), and the relationship to epilepsy type, demographic/treatment variables, and brain organisation. Database searches used PRISMA guidelines with strict inclusion/exclusion criteria. Thirty included studies assessed patients with temporal lobe (TLE; n=709), frontocentral (FCE; n=22), and genetic generalised (GGE; n=48) epilepsy...
October 15, 2017: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/29045138/importance-of-the-c-terminus-of-aldh7a1-for-oligomerization-and-catalytic-activity
#4
David Korasick, Jesse Wyatt, Min Luo, Adrian R Laciak, Kasi Ruddraraju, Kent S Gates, Michael T Henzl, John J Tanner
Aldehyde dehydrogenase 7A1 (ALDH7A1) catalyzes the terminal step of lysine catabolism, the NAD+-dependent oxidation of α-aminoadipate semialdehyde to α-aminoadipate. Structures of ALDH7A1 reveal the C-terminus is a gate that opens and closes in response to the binding of α-aminoadipate. In the closed state, the C-terminus of one protomer stabilizes the active site of the neighboring protomer in the dimer-of-dimers tetramer. Specifically, Ala505 and Gln506 interact with the conserved aldehyde-anchor-loop in the closed state...
October 18, 2017: Biochemistry
https://www.readbyqxmd.com/read/29042871/application-of-array-comparative-genomic-hybridization-in-korean-children-under-6-years-old-with-global-developmental-delay
#5
Kyung Yeon Lee, Eunsim Shin
PURPOSE: Recent advancements in molecular techniques have greatly contributed to the discovery of genetic causes of unexplained developmental delay. Here, we describe the results of array comparative genomic hybridization (CGH) and the clinical features of 27 patients with global developmental delay. METHODS: We included 27 children who fulfilled the following criteria: Korean children under 6 years with global developmental delay; children who had at least one or more physical or neurological problem other than global developmental delay; and patients in whom both array CGH and G-banded karyotyping tests were performed...
September 2017: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/29037745/genetics-update-monogenetics-polygene-disorders-and-the-quest-for-modifying-genes
#6
REVIEW
Joseph D Symonds, Sameer M Zuberi
The genetic channelopathies are a broad collection of diseases. Many ion channel genes demonstrate wide phenotypic pleiotropy, but nonetheless concerted efforts have been made to characterise genotype-phenotype relationships. In this review we give an overview of the factors that influence genotype-phenotype relationships across this group of diseases as a whole, using specific individual channelopathies as examples. We suggest reasons for the limitations observed in these relationships. We discuss the role of ion channel variation in polygenic disease and highlight research that has contributed to unravelling the complex aetiological nature of these conditions...
October 13, 2017: Neuropharmacology
https://www.readbyqxmd.com/read/29037447/a-quinidine-non-responsive-novel-kcnt1-mutation-in-an-indian-infant-with-epilepsy-of-infancy-with-migrating-focal-seizures
#7
Priyanka Madaan, Prashant Jauhari, Aparajita Gupta, Biswaroop Chakrabarty, Sheffali Gulati
Epilepsy of infancy with migrating focal seizures {a.k.a malignant migrating partial seizures of infancy (MMPSI)} is an uncommon epileptic encephalopathy with a poor prognosis. Migrating focal seizures with autonomic features, developmental stagnation and refractoriness to treatment are its key features. It is caused by genetic defects in various ion channels, most common being sodium activated potassium channel (KCNT1), found in up to 50% of cases. With advent of genetic diagnosis and precision medicine, many targeted therapies have been identified...
October 13, 2017: Brain & Development
https://www.readbyqxmd.com/read/29033892/molecular-diagnosis-of-myoclonus-epilepsy-associated-with-ragged-red-fibers-syndrome-in-the-absence-of-ragged-red-fibers
#8
Sun Yeong Park, Se Hoon Kim, Young-Mock Lee
Myoclonus epilepsy with ragged-red fibers (MERRFs), an inherited mitochondrial disorder, has characteristic morphological changes of ragged-red fibers (RRFs) in muscle biopsy, in the absence of which mitochondrial etiology is usually not considered in patients with phenotypes suggestive of MERRF. In these circumstances, MERRF can only be diagnosed using genetic analyses. The symptoms, pathological findings, and imaging results being age dependent, we can construct a protocol based on these characteristics to understand the disease's natural course and to manage patients more effectively...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/29033429/cowden-syndrome-with-a-novel-pten-mutation-presenting-with-partial-epilepsy-related-to-focal-cortical-dysplasia
#9
Tadashi Adachi, Hiroshi Takigawa, Takashi Nomura, Yasuhiro Watanabe, Hisanori Kowa
Cowden syndrome is a rare autosomal dominant disorder characterized by multiple hamartomas of the ectoderm and brain. A 36-year-old Japanese man presented with right facial seizure during sleep and was admitted to our hospital. He showed cobblestoning over the tongue and palmar pitting but no neurological abnormalities while he was not having a seizure. Brain magnetic resonance imaging showed focal cortical dysplasia in the left frontal lobe. Electroencephalography showed sharp waves over the left frontal lesion...
October 16, 2017: Internal Medicine
https://www.readbyqxmd.com/read/29031192/growth-and-endocrine-function-in-children-with-dravet-syndrome
#10
Krista Eschbach, Sharon Scarbro, Elizabeth Juarez-Colunga, Victoria Allen, Stephanie Hsu, Kelly Knupp
PURPOSE: Dravet syndrome is an intractable childhood epilepsy syndrome most often associated with an SCN1A mutation. In our clinical practice, several patients with Dravet syndrome were noted to have short stature and endocrine dysfunction. This has not been reported in the literature. Our study aim was to describe growth measurements and endocrine abnormalities in children with Dravet syndrome. METHOD: A retrospective chart review was performed at a single institution...
September 29, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29027297/factors-associated-with-ambulatory-care-sensitive-emergency-department-visits-for-south-carolina-medicaid-members-with-intellectual-disability
#11
S McDermott, J Royer, J R Mann, B S Armour
INTRODUCTION: Ambulatory care sensitive conditions (ACSCs) can be seen as failure of access or management in primary care settings. Identifying factors associated with ACSCs for individuals with an Intellectual Disability (ID) provide insight into potential interventions. METHOD: To assess the association between emergency department (ED) ACSC visits and a number of demographic and health characteristics of South Carolina Medicaid members with ID. A retrospective cohort of adults with ID was followed from 2001 to 2011...
October 13, 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/29023667/postnatal-reduction-of-tuberous-sclerosis-complex-1-expression-in-astrocytes-and-neurons-causes-seizures-in-an-age-dependent-manner
#12
Jia Zou, Bo Zhang, David H Gutmann, Michael Wong
OBJECTIVE: Epilepsy is one of the most prominent symptoms of tuberous sclerosis complex (TSC), a genetic disorder, and may be related to developmental defects resulting from impaired TSC1 or TSC2 gene function in astrocytes and neurons. Inactivation of the Tsc1 gene driven by a glial-fibrillary acidic protein (GFAP) promoter during embryonic brain development leads to widespread pathologic effects on astrocytes and neurons, culminating in severe, progressive epilepsy in mice (Tsc1(GFAP)(-Cre) mice)...
October 12, 2017: Epilepsia
https://www.readbyqxmd.com/read/29018767/optical-coherence-tomography-features-in-a-case-of-type-i-sialidosis
#13
I-Hua Wang, Ting-Yu Lin, Shu-Ting Kao
A 15-year-old boy presented with progressive myoclonic epilepsy and unbalance gaits for 4 years. Slit lamp examination showed a punctate cataract and funduscopic examination revealed bilateral macular cherry-red spots. Macular scan of spectral domain optical coherence tomography (SD-OCT) showed hyperreflectivity of the inner retinal layer and apparent hyperreflectivity of the photoreceptor layers in the foveal region. The clinical presentations were consistent with a Type I sialidosis which led to genetic analysis and revealed NEU1 mutation in this patient...
April 2017: Taiwan Journal of Ophthalmology
https://www.readbyqxmd.com/read/29017573/gad67-haploinsufficiency-reduces-amyloid-pathology-and-rescues-olfactory-memory-deficits-in-a-mouse-model-of-alzheimer-s-disease
#14
Yue Wang, Zheng Wu, Yu-Ting Bai, Gang-Yi Wu, Gong Chen
BACKGROUND: Alzheimer's disease (AD) is the most common age-related neurodegenerative disorder, affecting millions of people worldwide. Although dysfunction of multiple neurotransmitter systems including cholinergic, glutamatergic and GABAergic systems has been associated with AD progression the underlying mechanisms remain elusive. We and others have recently found that GABA content is elevated in AD brains and linked to cognitive deficits in AD mouse models. The glutamic acid decarboxylase 67 (GAD67) is the major enzyme converting glutamate into GABA and has been implied in a number of neurological disorders such as epilepsy and schizophrenia...
October 10, 2017: Molecular Neurodegeneration
https://www.readbyqxmd.com/read/28993753/electroencephalography-in-the-diagnosis-of-genetic-generalized-epilepsy-syndromes
#15
REVIEW
Udaya Seneviratne, Mark J Cook, Wendyl Jude D'Souza
Genetic generalized epilepsy (GGE) consists of several syndromes diagnosed and classified on the basis of clinical features and electroencephalographic (EEG) abnormalities. The main EEG feature of GGE is bilateral, synchronous, symmetric, and generalized spike-wave complex. Other classic EEG abnormalities are polyspikes, epileptiform K-complexes and sleep spindles, polyspike-wave discharges, occipital intermittent rhythmic delta activity, eye-closure sensitivity, fixation-off sensitivity, and photoparoxysmal response...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28988644/longitudinal-study-of-accelerated-long-term-forgetting-in-children-with-genetic-generalized-epilepsy-evidence-of-ongoing-deficits
#16
Jasmin Grayson-Collins, Michael B Gascoigne, Belinda Barton, Richard Webster, Deepak Gill, Suncica Lah
Accelerated long-term forgetting (ALF) is a recently described memory disorder characterised by adequate recall after short, but not long delays. Currently, the prevailing conceptualisation of ALF is of a seizure related phenomenon. The main aim of this study was to assess whether ALF subsides as epilepsy severity and seizures abate in children with genetic generalized epilepsy (GGE). Eighteen children with GGE were compared over time to 29 healthy controls on a range of cognitive measures. The primary outcome was a modified version of the California Verbal Learning Test for Children with a long delay (seven day) recall component...
September 15, 2017: Cortex; a Journal Devoted to the Study of the Nervous System and Behavior
https://www.readbyqxmd.com/read/28987170/neuropathology-of-epilepsy
#17
Eleonora Aronica, Angelika Mühlebner
Epilepsy is one of the most common neurologic disorders, affecting about 50 million people worldwide. The disease is characterized by recurrent seizures, which are due to aberrant neuronal networks resulting in synchronous discharges. The term epilepsy encompasses a large spectrum of syndromes and diseases with different etiopathogenesis. The recent development of imaging and epilepsy surgery techniques is now enabling the identification of structural abnormalities that are part of the epileptic network, and the removal of these lesions may result in control of seizures...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28984246/the-role-of-eeg-in-the-diagnosis-and-classification-of-the-epilepsy-syndromes-a-tool-for-clinical-practice-by-the-ilae-neurophysiology-task-force-part-1
#18
Michalis Koutroumanidis, Alexis Arzimanoglou, Roberto Caraballo, Sushma Goyal, Anna Kaminska, Pramote Laoprasert, Hirokazu Oguni, Guido Rubboli, William Tatum, Pierre Thomas, Eugen Trinka, Luca Vignatelli, Solomon L Moshé
The concept of epilepsy syndromes, introduced in 1989, was defined as "clusters of signs and symptoms customarily occurring together". Definition of epilepsy syndromes based on electro-clinical features facilitated clinical practice and, whenever possible, clinical research in homogeneous groups of patients with epilepsies. Progress in the fields of neuroimaging and genetics made it rapidly clear that, although crucial, the electro-clinical description of epilepsy syndromes was not sufficient to allow much needed development of targeted therapies and a better understanding of the underlying pathophysiological mechanisms of seizures...
October 6, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28982809/understanding-the-health-economic-burden-of-patients-with-tuberous-sclerosis-complex-tsc-with-epilepsy-a-retrospective-cohort-study-in-the-uk-clinical-practice-research-datalink-cprd
#19
Charles Shepherd, Matthias Koepp, Melissa Myland, Keyur Patel, Cristiana Miglio, Vathani Siva, Elizabeth Gray, Maureen Neary
INTRODUCTION: Epilepsy is highly prevalent in tuberous sclerosis complex (TSC), a multi-system genetic disorder. The clinical and economic burden of this condition is expected to be substantial due to treatment challenges, debilitating co-morbidities and the relationship between TSC-related manifestations. This study estimated healthcare resource utilisation (HCRU) and costs for patients with TSC with epilepsy (TSC+E) in the UK. METHODS: Patients with TSC+E in the Clinical Practice Research Datalink (CPRD) linked to Hospital Episodes Statistics were identified from April 1997 to March 2012...
October 5, 2017: BMJ Open
https://www.readbyqxmd.com/read/28973916/cannabidiol-attenuates-seizures-and-social-deficits-in-a-mouse-model-of-dravet-syndrome
#20
Joshua S Kaplan, Nephi Stella, William A Catterall, Ruth E Westenbroek
Worldwide medicinal use of cannabis is rapidly escalating, despite limited evidence of its efficacy from preclinical and clinical studies. Here we show that cannabidiol (CBD) effectively reduced seizures and autistic-like social deficits in a well-validated mouse genetic model of Dravet syndrome (DS), a severe childhood epilepsy disorder caused by loss-of-function mutations in the brain voltage-gated sodium channel NaV1.1. The duration and severity of thermally induced seizures and the frequency of spontaneous seizures were substantially decreased...
October 2, 2017: Proceedings of the National Academy of Sciences of the United States of America
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