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https://www.readbyqxmd.com/read/28436815/moyamoya-in-a-patient-with-fires-a-first-case-report
#1
Taylor Kaufman, Andrew White
Febrile infection-related epilepsy syndrome (FIRES) is a form of epileptic encephalopathy with severe refractory epilepsy that presents in previously healthy, school-aged children after significant febrile illness with concomitant rise in body temperature. Suspected causes include genetic or acquired channelopathies, as well as mitochondrial disturbances. In FIRES, the EEG shows diffuse slowing, generalized, and/or multifocal discharges. Seizures are present and resistant to treatment. Moyamoya angiopathy (MMA) is characterized by progressive stenosis of cerebral arteries and subsequent development of a network of collateral circulation that is prone to rupture...
2017: Neurodiagnostic Journal
https://www.readbyqxmd.com/read/28436534/a-novel-trpa1-variant-is-associated-with-carbamazepine-responsive-cramp-fasciculation-syndrome
#2
M J Nirenberg, R Chaouni, T M Biller, R M Gilbert, C Paisán-Ruiz
Cramp-fasciculation syndrome (CFS) is a rare muscle hyperexcitability syndrome that presents with muscle cramps, fasciculations, and stiffness, as well as pain, fatigue, anxiety, hyperreflexia, and paresthesias. Although familial cases have been reported, a genetic etiology has not yet been identified. We performed whole-exome sequencing followed by validation and cosegregation analyses on a father-son pair with CFS. Both subjects manifested other hypersensitivity-hyperexcitability symptoms, including asthma, gastroesophageal reflux, migraine, restless legs syndrome, tremor, cold hyperalgesia, and cardiac conduction defects...
April 24, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28430892/anti-arrhythmic-potential-of-the-late-sodium-current-inhibitor-gs-458967-in-murine-scn5a-1798insd-and-human-scn5a-1795insd-ipsc-derived-cardiomyocytes
#3
Vincent Portero, Simona Casini, Maaike Hoekstra, Arie O Verkerk, Isabella Mengarelli, Luiz Belardinelli, Sridharan Rajamani, Arthur A M Wilde, Connie R Bezzina, Marieke W Veldkamp, Carol Ann Remme
AIM: Selective inhibition of cardiac late sodium current (INaL) is an emerging target in the treatment of ventricular arrhythmias. We investigated the electrophysiological effects of GS-458967 (GS967), a potent, selective inhibitor of INaL, in an overlap syndrome model of both gain and loss of sodium channel function, comprising cardiomyocytes derived from both human SCN5A-1795insD+/- induced pluripotent stem cells (hiPSC-CMs) and mice carrying the homologous mutation Scn5a-1798insD+/-...
April 18, 2017: Cardiovascular Research
https://www.readbyqxmd.com/read/28420732/modulation-of-tmem16a-channel-activity-by-the-von-willebrand-factor-type-a-vwa-domain-of-the-calcium-activated-chloride-channel-regulator-1-clca1
#4
Monica Sala-Rabanal, Zeynep Yurtsever, Kayla N Berry, Colin G Nichols, Tom J Brett
Calcium-activated chloride channels (CaCCs) are key players in transepithelial ion transport and fluid secretion, smooth muscle constriction, neuronal excitability, and cell proliferation. The CaCC regulator 1 (CLCA1) modulates the activity of the CaCC TMEM16A/Anoctamin 1 (ANO1) by directly engaging the channel at the cell surface, but the exact mechanism is unknown. Here, we demonstrate that the von Willebrand factor type A (VWA) domain within the cleaved CLCA1 N-terminal fragment is necessary and sufficient for this interaction...
April 18, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28416468/cardiac-transplantation-in-children-and-adolescents-with-long-qt-syndrome
#5
Angela M Kelle, J Martijn Bos, Susan P Etheridge, Bryan C Cannon, Randall M Bryant, Jonathan N Johnson, Michael J Ackerman
BACKGROUND: Long QT syndrome (LQTS) is a potentially lethal, yet highly treatable, cardiac channelopathy. Cardiac transplantation has been reported anecdotally for patients with severe LQTS refractory to standard therapies. OBJECTIVE: We evaluated the incidence and risk factors for cardiac transplantation among children evaluated and treated in an LQTS specialty center. METHODS: This was a retrospective review of 349 children with LQTS (mean age at diagnosis, 8...
April 14, 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/28410768/-small-fiber-neuropathy
#6
V Langlois, A-L Bedat Millet, M Lebesnerais, S Miranda, F Marguet, Y Benhamou, P Marcorelles, H Lévesque
Small fiber neuropathy (SFN) is still unknown. Characterised by neuropathic pain, it typically begins by burning feet, but could take many other expression. SFN affects the thinly myelinated Aδ and unmyelinated C-fibers, by an inherited or acquired mechanism, which could lead to paresthesia, thermoalgic disorder or autonomic dysfunction. Recent studies suggest the preponderant role of ion channels such as Nav1.7. Furthermore, erythromelalgia or burning mouth syndrome are now recognized as real SFN. Various aetiologies of SFN are described...
April 11, 2017: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/28410084/clinical-and-electroencephalographic-characteristics-of-infantile-onset-epilepsies-caused-by-genetic-mutations
#7
Yun Jung Hur, Sookyong Koh, John Millichap, Srishti Nangia, Lawrence J Jennings, Douglas R Nordli
OBJECTIVES: To determine whether certain characteristic electroencephalography (EEG) features are indicative of a genetic cause in early-life epilepsy. STUDY DESIGN: We enrolled a total of 100 patients with infantile-onset (<3 years) epilepsy due to known genetic cause (n = 50) and nongenetic cause (acquired, structural, or unknown, n = 50). The genetic group was classified into synaptopathies, channelopathies, mTOR (mammalian target of rapamycin)-opathies, and chromosomal abnormalities...
May 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28389699/ion-channelopathies-and-migraine-pathogenesis
#8
REVIEW
Cassie L Albury, Shani Stuart, Larisa M Haupt, Lyn R Griffiths
Migraine is a common neurological disorder that affects approximately 12-20% of the general adult population. Migraine pathogenesis is complex and not wholly understood. Molecular genetic investigations, imaging and biochemical studies, have unveiled a number of interconnected neurological pathways which seem to have a cause and effect component integral to its cause. Much weight of migraine attack initiation can be placed on the initial trigger and the pathways involved in its neuronal counter reaction. Ion channels play a large role in the generation, portrayal and mitigation of the brains response to external triggers...
April 7, 2017: Molecular Genetics and Genomics: MGG
https://www.readbyqxmd.com/read/28388887/a-burden-of-rare-variants-in-bmpr2-and-kcnk3-contributes-to-a-risk-of-familial-pulmonary-arterial-hypertension
#9
Koichiro Higasa, Aiko Ogawa, Chikashi Terao, Masakazu Shimizu, Shinji Kosugi, Ryo Yamada, Hiroshi Date, Hiromi Matsubara, Fumihiko Matsuda
BACKGROUND: Pulmonary arterial hypertension (PAH) is a severe lung disease with only few effective treatments available. Familial cases of PAH are usually recognized as an autosomal dominant disease, but incomplete penetrance of the disease makes it difficult to identify pathogenic variants in accordance with a Mendelian pattern of inheritance. METHODS: To elucidate the complex genetic basis of PAH, we obtained whole exome- or genome-sequencing data of 17 subjects from 9 families with heritable PAH and applied gene-based association analysis with 9 index patients and 300 PAH-free controls...
April 7, 2017: BMC Pulmonary Medicine
https://www.readbyqxmd.com/read/28386229/clc-channels-and-transporters-structure-physiological-functions-and-implications-in-human-chloride-channelopathies
#10
REVIEW
Diogo R Poroca, Ryan M Pelis, Valérie M Chappe
The discovery of ClC proteins at the beginning of the 1990s was important for the development of the Cl(-) transport research field. ClCs form a large family of proteins that mediate voltage-dependent transport of Cl(-) ions across cell membranes. They are expressed in both plasma and intracellular membranes of cells from almost all living organisms. ClC proteins form transmembrane dimers, in which each monomer displays independent ion conductance. Eukaryotic members also possess a large cytoplasmic domain containing two CBS domains, which are involved in transport modulation...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28377535/grin2b-encephalopathy-novel-findings-on-phenotype-variant-clustering-functional-consequences-and-treatment-aspects
#11
Konrad Platzer, Hongjie Yuan, Hannah Schütz, Alexander Winschel, Wenjuan Chen, Chun Hu, Hirofumi Kusumoto, Henrike O Heyne, Katherine L Helbig, Sha Tang, Marcia C Willing, Brad T Tinkle, Darius J Adams, Christel Depienne, Boris Keren, Cyril Mignot, Eirik Frengen, Petter Strømme, Saskia Biskup, Dennis Döcker, Tim M Strom, Heather C Mefford, Candace T Myers, Alison M Muir, Amy LaCroix, Lynette Sadleir, Ingrid E Scheffer, Eva Brilstra, Mieke M van Haelst, Jasper J van der Smagt, Levinus A Bok, Rikke S Møller, Uffe B Jensen, John J Millichap, Anne T Berg, Ethan M Goldberg, Isabelle De Bie, Stephanie Fox, Philippe Major, Julie R Jones, Elaine H Zackai, Rami Abou Jamra, Arndt Rolfs, Richard J Leventer, John A Lawson, Tony Roscioli, Floor E Jansen, Emmanuelle Ranza, Christian M Korff, Anna-Elina Lehesjoki, Carolina Courage, Tarja Linnankivi, Douglas R Smith, Christine Stanley, Mark Mintz, Dianalee McKnight, Amy Decker, Wen-Hann Tan, Mark A Tarnopolsky, Lauren I Brady, Markus Wolff, Lutz Dondit, Helio F Pedro, Sarah E Parisotto, Kelly L Jones, Anup D Patel, David N Franz, Rena Vanzo, Elysa Marco, Judith D Ranells, Nataliya Di Donato, William B Dobyns, Bodo Laube, Stephen F Traynelis, Johannes R Lemke
BACKGROUND: We aimed for a comprehensive delineation of genetic, functional and phenotypic aspects of GRIN2B encephalopathy and explored potential prospects of personalised medicine. METHODS: Data of 48 individuals with de novo GRIN2B variants were collected from several diagnostic and research cohorts, as well as from 43 patients from the literature. Functional consequences and response to memantine treatment were investigated in vitro and eventually translated into patient care...
April 4, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28377192/sudden-cardiac-death-new-approaches-for-implantable-cardioverter-defibrillators-icds
#12
Riccardo Cappato, Hussam Ali
The implantable cardioverter-defibrillator (ICD) has shown its superiority to anti-arrhythmic drugs in the prevention of sudden cardiac death. However, the conventional transvenous ICDs are still associated with substantial risks and comorbidities mainly related to the transvenous leads. The recent advent of an entirely sub-cutaneous ICD (S-ICD) represents an important progress in the defibrillation technology towards a less invasive approach. Clinical data are growing regarding the safety and efficacy of S-ICD in prevention of sudden cardiac death in selected patients without pacing indications...
March 18, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28371698/cardiovascular-causes-of-maternal-sudden-death-sudden-arrhythmic-death-syndrome-is-leading-cause-in-uk
#13
Dimitra Krexi, Mary N Sheppard
OBJECTIVE: This study aims to determine the causes of sudden cardiac death during pregnancy and in the postpartum period and patients' characteristics. There are few studies in the literature. METHODS: Eighty cases of sudden unexpected death due to cardiac causes in relation to pregnancy and postpartum period in a database of 4678 patients were found and examined macroscopically and microscopically. RESULTS: The mean age was 30±7 years with a range from 16 to 43 years...
May 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28363160/ion-channelopathies-associated-genetic-variants-as-the-culprit-for-sudden-unexplained-death
#14
REVIEW
Shouyu Wang, Lijuan Li, Ruiyang Tao, Yuzhen Gao
Forensic identification of sudden unexplained death (SUD) has always been a ticklish issue because it used to be defined as sudden death without a conclusive diagnosis after autopsy. However, benefiting from the developments in genome research, a growing body of evidence points to the importance of ion channelopathies associated genetic variants in the pathogenesis of SUD. Genetic diagnosis of the deceased is also a new trend in epidemiological studies, for it enables the undertaking for preventive approach in individuals with high risks...
March 21, 2017: Forensic Science International
https://www.readbyqxmd.com/read/28352661/store-operated-ca-2-entry-controls-ameloblast-cell-function-and-enamel-development
#15
Miriam Eckstein, Martin Vaeth, Cinzia Fornai, Manikandan Vinu, Timothy G Bromage, Meerim K Nurbaeva, Jessica L Sorge, Paulo G Coelho, Youssef Idaghdour, Stefan Feske, Rodrigo S Lacruz
Loss-of-function mutations in stromal interaction molecule 1 (STIM1) impair the activation of Ca(2+) release-activated Ca(2+) (CRAC) channels and store-operated Ca(2+) entry (SOCE), resulting in a disease syndrome called CRAC channelopathy that is characterized by severe dental enamel defects. The cause of these enamel defects has remained unclear given a lack of animal models. We generated Stim1/2(K14cre) mice to delete STIM1 and its homolog STIM2 in enamel cells. These mice showed impaired SOCE in enamel cells...
March 23, 2017: JCI Insight
https://www.readbyqxmd.com/read/28344437/eplerenone-repolarizes-muscle-membrane-through-na-k-atpase-activation-by-tyr10-dephosphorylation
#16
Simon Breitenbach, Frank Lehmann-Horn, Karin Jurkat-Rott
Eplerenone, an aldosterone antagonist, repolarizes muscle membrane in-vitro and increases strength in-vivo in channelopathies. In Duchenne dystrophy, it is administered for cardiomyopathy. We studied its mechanism of action on skeletal muscle to test its suitability for increasing strength in Duchenne dystrophy. Using membrane potential measurements, quantitative PCR, ELISA, and Western blots, we examined the effects of eplerenone on skeletal muscle Na,K-ATPase. The repolarizing effect of eplerenone in muscle fibres was counteracted by oubain, an ATPase blocker...
October 2016: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/28343764/channelopathies-genetic-testing-and-risk-stratification
#17
Arthur A M Wilde, Ahmad Amin
The cardiac channelopathies are a group of diseases with (disease-) specific electrocardiographic (ECG) characteristics and a disease-specific risk of sudden cardiac death (SCD). This group includes the Long QT Syndromes (LQTS), Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT), Brugada Syndrome (BrS), Short QT Syndromes (SQTS), and Early Repolarization Syndrome (ERS). In the past 2 decades the genetic basis for these disease entities has largely been unraveled and that, together with the identification of the genetic basis of the cardiomyopathies, has paved the way for the complete new field of Cardiogenetics...
March 18, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28340026/high-rate-of-subcutaneous-implantable-cardioverter-defibrillator-sensing-screening-failure-in-patients-with-brugada-syndrome-a-comparison-with-other-inherited-primary-arrhythmia-syndromes
#18
Giulio Conte, Mihoko Kawabata, Carlo de Asmundis, Erika Taravelli, Francesco Petracca, Diego Ruggiero, Maria Luce Caputo, François Regoli, Gian-Battista Chierchia, Alessandra Chiodini, Alessandro Del Bufalo, Tiziano Moccetti, Masahiko Goya, Kenzo Hirao, Alessandro Vicentini, Gaetano M De Ferrari, Pedro Brugada, Angelo Auricchio
Aims: Subcutaneous implantable cardioverter-defibrillator (S-ICD) can avoid important complications associated with transvenous leads in patients with inherited primary arrhythmia syndromes, who do not need pacing therapy. Few data are available on the percentage of patients with inherited arrhythmia syndromes eligible for S-ICD implantation. Aim of this study was to analyse the eligibility for S-ICD in a series of patients with Brugada syndrome (BrS), and to compare it with patients with other channelopathies...
March 7, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28336205/andersen-tawil-syndrome-clinical-presentation-and-predictors-of-symptomatic-arrhythmias-possible-role-of-polymorphisms-k897t-in-kcnh2-and-h558r-in-scn5a-gene
#19
Michalina Krych, Elżbieta Katarzyna Biernacka, Joanna Ponińska, Piotr Kukla, Artur Filipecki, Robert Gajda, Can Hasdemir, Charles Antzelevitch, Agnieszka Kosiec, Małgorzata Szperl, Rafał Płoski, Maria Trusz-Gluza, Katarzyna Mizia-Stec, Piotr Hoffman
BACKGROUND: Andersen-Tawil syndrome (ATS) is rare channelopathy caused by KCNJ2 mutation and probably KCNJ5. It is characterized by arrhythmias, neurological symptoms, and dysmorphic features. The present study retrospectively examined the characteristics of 11 unrelated families with ATS. METHODS: This study consisted of 11 probands positive for KCNJ2 variants and 33 family members (mean age 30.0±17.3 years, female n=31). Additional genetic screening of 3 LQTS genes (KCNQ1, KCNH2, SCN5A) was performed in 9 families...
March 20, 2017: Journal of Cardiology
https://www.readbyqxmd.com/read/28325641/spectrum-of-nondystrophic-skeletal-muscle-channelopathies-in-children
#20
Fouad Al-Ghamdi, Basil T Darras, Partha S Ghosh
BACKGROUND: The nondystrophic skeletal muscle channelopathies are a group of disorders caused by mutations of various voltage-gated ion channel genes, including nondystrophic myotonia and periodic paralysis. METHODS: We identified patients with a diagnosis of muscle channelopathy from our neuromuscular database in a tertiary care pediatric center from 2005 to 2015. We then performed a retrospective review of their medical records for demographic characteristics, clinical features, investigations, treatment, and follow-up...
February 16, 2017: Pediatric Neurology
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