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SCIENTIFIC REPORTS, ISSN 2045-2322, 11/2019, Volume 9, Issue 1, pp. 17560 - 11
The sarcolemmal voltage gated sodium channel Na(v)1.4 conducts the key depolarizing current that drives the upstroke of the skeletal muscle action potential.... 
INACTIVATION | SODIUM | BUMETANIDE | NONDYSTROPHIC MYOTONIA | MULTIDISCIPLINARY SCIENCES | MUSCLE CHANNELOPATHIES | VOLTAGE SENSOR | CHANNELS | SCN4A | GATING PORE | Depolarization | Musculoskeletal system | Genetic variability | Arginine | Myotonia | Sodium channels (voltage-gated) | Action potential | Paralysis | Mutation | Skeletal muscle
Journal Article
Neurology: Clinical Practice, ISSN 2163-0402, 10/2019, p. 10
Journal Article
JAMA Neurology, ISSN 2168-6149, 12/2015, Volume 72, Issue 12, pp. 1531 - 1533
Journal Article
Brain, ISSN 0006-8950, 2016, Volume 139, Issue 3, pp. 674 - 691
Journal Article
Journal Article
Practical Neurology, ISSN 1474-7758, 04/2014, Volume 14, Issue 2, pp. 102 - 106
Journal Article
Clinical Neurophysiology, ISSN 1388-2457, 04/2020, Volume 131, Issue 4, pp. 816 - 827
•The muscle resting membrane potential is depolarised in HypoPP, but mostly normal in HyperPP.•Muscle excitability studies support the presence of a window... 
Paramyotonia congenita | Sodium channel | Membrane potential | Calcium channel | Periodic paralysis | Muscle excitability | ACTIVATION | SENSITIVITY | MUSCLE ACTION-POTENTIALS | NEUROSCIENCES | CLINICAL NEUROLOGY | MYOTONIA | SODIUM-CHANNEL MUTATIONS | VELOCITY RECOVERY CYCLES | MOUSE MODEL | SLOW INACTIVATION | DYSFUNCTION
Journal Article
BRAIN, ISSN 0006-8950, 02/2020, Volume 143, Issue 2, pp. 452 - 466
Brody disease is an autosomal recessive myopathy characterized by exercise-induced muscle stiffness due to mutations in the ATP2A1 gene. Almost 50 years after... 
phenotype | DIAGNOSIS | calcium | MALIGNANT HYPERTHERMIA | SERCA1 | DISORDERS | ATP2A1 | Brody disease | SARCOPLASMIC-RETICULUM | NEUROSCIENCES | CHIANINA CATTLE | CLINICAL NEUROLOGY | genotype | SKELETAL-MUSCLE | PSEUDOMYOTONIA | MYOPATHIES | RETICULUM CA2+ ATPASE | Editor's Choice | Original
Journal Article
Expert Opinion on Orphan Drugs, ISSN 2167-8707, 03/2020, Volume 8, Issue 2-3, pp. 43 - 49
Introduction: NaMuscla, (mexiletine), is the first licensed treatment for the Non-Dystrophic Myotonias (NDM). NDM are categorized by genetic ion channel... 
Non-dystrophic myotonia | antimyotonic | skeletal muscle channelopathy | mexiletine | MUSCLE CHANNELOPATHIES | BLOCK | DOMINANT | PARAMYOTONIA-CONGENITA | IMPROVEMENT | PHARMACOLOGY & PHARMACY | CHLORIDE CHANNEL | MUTATIONS | PERMANENS
Journal Article
by SARA POZZI and JUAN PEDRO MARTINEZ-BARBERA and HARRY G LEITCH and MAN ZHANG and WALFRED W C TANG and NICOLA FESTUCCIA and JENNIFER NICHOLS and M AZIM SURANI and AUSTIN SMITH and IAN CHAMBERS and YEON JOO KIM and JI YOUNG LEE and MASATAKE ARAKI and KIMI ARAKI and TIMOTHY MOHUN and PARIS ATALIOTIS and NIGEL BROWN and HYUNG-GOO KIM and DANIEL OSBORN and LAWRENCE LAYMAN and SOO-HYUN KIM and GABRIELA CARRENO and HADEEL ADEL A-LAMI and WILLIAM BARRELL and KAREN LIU and JAMES CLEAK and SARA JOHNSON and ZSOMBOR SZOKE-KOVACS and NEIL HORNER and JAMES BROWN and HENRIK WESTERBERG and LYDIA TEBOUL and ANAHID A BIRJANDI and KAREN J LIU and MARTYN T COBOURNE and FEDERICA BUONOCORE and PETER KÜHNEN and JENIFER P SUNTHARALINGHAM and IGNACIO DEL VALLE and MARTIN DIGWEED and HARALD STACHELSCHEID and NOUSHAFARIN KHAJAVI and MOHAMMED DIDI and ANGELA F BRADY and OLIVER BLANKENSTEIN and ANNIE M PROCTER and PAUL DIMITRI and JERRY K H WALES and PAOLO GHIRRI and DIETER KNÖBL and BRIGITTE STRAHM and MIRIAM ERLACHER and WEI CHEN and GLENN ANDERSON and DEBORAH MORROGH and DALE A MOULDING and SHANE A MCKEE and CHARLOTTE M NIEMEYER and ANNETTE GRÜTERS and JOHN C ACHERMANN and SALAH AZZI and FLORENCE NAILLAT and ANNE SEGONDS-PICHON and HEBA SAADEH and SIMON ANDREWS and SEBASTIAN SMALLWOOD and GAVIN KELSEY and CAROL A EDWARDS and DIONNE J GRAY and ANNE C FERGUSON-SMITH and TESSA M BERTOZZI and ANASTASIYA KAZACHENKA and MARCELA K SJÖBERG and NIC WALKER and DAVID J ADAMS and SUNEEL APTE and GABRIEL L GALEA and YOUNG-JUN CHO and GAUDEN GALEA and MATTEO A MOLÉ and ANA ROLO and DAWN SAVERY and DALE MOULDING and EVANTHIA NIKOLOPOULOU and NICHOLAS D E GREENE and ANDREW J COPP and JINGJING LI and ANDREW ECONOMOU and JEREMY GREEN and DANIEL DORO and KSHEMENDRA SENARATH-YAPA and ANNIE LIU and INYOUNG CHO and RUPALI LAV and JUAN FONS ROMERO and ABIGAIL TUCKER and ARAZ AHMED and ISABELLE MILETICH and NOREEN EDER and SILA ULTANIR and ...
Genetics Research, ISSN 0016-6723, 2017, Volume 99
Journal Article
05/2016, ISBN 1118777360, 3
The skeletal muscle channelopathies are a rare group of genetic dis‐orders whose muscular manifestations range from pure myotonia to myotonia with episodes of... 
flaccid paralysis | paramyotonia congenita | non‐dystropic myotonias | sodium channel myotonia | myotonia congenita | muscle channelopathies | myotonia
Book Chapter
Journal Article
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