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Channelopathy
Results: 689

#	Item
441	Medical Testing of Some Inherited Disorders for Families who have Suffered a Sudden Unexplained Death Families who have experienced the sudden unexplained death of their baby or child often ask, “Should I have my other Add to Reading List Source URL: www.sudc.org Language: English - Date: 2012-10-12 15:24:44 Syndromes Channelopathy Infancy Pediatrics Sudden infant death syndrome Catecholaminergic polymorphic ventricular tachycardia Long QT syndrome QT interval Epilepsy Medicine Health Cardiac dysrhythmia
442	Traditional and Human Genome Variation Society (HGVS) Standard Nomenclature for Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Mutations and Variants Included on the Michigan Newbo Add to Reading List Source URL: www.michigan.gov Language: English - Date: 2013-01-08 07:53:12 Mutation Channelopathy Pediatrics ΔF508 Cystic fibrosis 1G Ivacaftor Biology Health Genetics
443	Recurrent De Novo Mutations of SCN1A in Severe Myoclonic Epilepsy of Infancy Jennifer A. Kearney, PhD, Anna K. Wiste, BS†, Ulrich Stephani, MD‡, Michelle M. Trudeau, MS, Anne Siegel, BS†, Rajesh RamachandranNair, Add to Reading List Source URL: www.hg.med.umich.edu Language: English - Date: 2009-10-27 15:32:32 Channelopathy Ion channels Generalized epilepsy with febrile seizures plus Neurological disorders Myoclonus Sodium channel Febrile seizure Generalised epilepsy Lamotrigine Epilepsy Brain Seizure types
444	Downloaded from jmg.bmjjournals.com on 8 February[removed]Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia and mental retardation Michelle M Trudeau, Jol Add to Reading List Source URL: www.hg.med.umich.edu Language: English - Date: 2009-10-27 15:32:36 Neurological disorders Gene expression Protein biosynthesis Generalized epilepsy with febrile seizures plus Microsatellite Spinocerebellar ataxia Nav1.1 Mutation Genetic code Biology Genetics Channelopathy
445	Microsoft Word - nei_052709.doc Add to Reading List Source URL: www.eyeresearch.org Language: English - Date: 2009-06-11 12:23:44 Blindness Channelopathy Foundation Fighting Blindness Retinitis pigmentosa Macular degeneration Usher syndrome Vision loss Retina The Llura Liggett Gund Award Health Ophthalmology Vision
446	PDF Document Add to Reading List Source URL: www.hg.med.umich.edu Language: English - Date: 2009-10-27 15:32:34 Channelopathy Central nervous system Electrophysiology Integral membrane proteins Seizure types Generalized epilepsy with febrile seizures plus Sodium channel Epilepsy Nav1.1 Ion channels Biology Brain
447	Genes in Long QT Syndromes Andrew D. Krahn MD FRCPC Coworkers: Michael Gollob MD* George J. Klein MD Add to Reading List Source URL: www.sads.ca Language: English - Date: 2013-03-10 20:04:19 Syndromes Biology Ion channels Rare diseases Long QT syndrome KvLQT1 KCNE1 Romano-Ward syndrome HERG Health Channelopathy Cardiac dysrhythmia
448	Cystic Fibrosis (CF) What is a positive newborn screen? Newborn screening is done on tiny samples of blood taken from your baby’s heel 24 to 36 hours after birth. Newborn screening tests for rare, hidden disorders that Add to Reading List Source URL: michigan.gov Language: English - Date: 2012-12-07 14:19:35 Rare diseases Channelopathy Cystic fibrosis Newborn screening Sweat test Mucus Cystic Fibrosis Foundation Screening .cf Health Medicine Pediatrics
449	© 2000 Nature America Inc. • http://genetics.nature.com brief communications © 2000 Nature America Inc. • http://genetics.nature.com Add to Reading List Source URL: www.hg.med.umich.edu Language: English - Date: 2009-10-27 15:32:28 Integral membrane proteins Channelopathy Generalized epilepsy with febrile seizures plus Genetics Nav1.1 MSX1 Sodium channel Mutation Cleft lip and palate Biology Ion channels Electrophysiology
450	10022 • The Journal of Neuroscience, November 3, 2004 • 24(44):10022–[removed]Neurobiology of Disease A Novel Epilepsy Mutation in the Sodium Channel SCN1A Identifies a Cytoplasmic Domain for ␤ Subunit Interaction Add to Reading List Source URL: www.hg.med.umich.edu Language: English - Date: 2009-10-27 15:32:34 Integral membrane proteins Cell communication Channelopathy Generalized epilepsy with febrile seizures plus Sodium channel Action potential Membrane potential Nav1.1 Gating Biology Electrophysiology Ion channels

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