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searching for Channelopathy 25 found (53 total)

Kv1.1 (2,127 words) [view diff] exact match in snippet view article find links to article

"Autoimmune neuromyotonia (Isaacs' syndrome): an antibody-mediated potassium channelopathy". Ann. N. Y. Acad. Sci. 835 (1): 111–9. Bibcode:1997NYASA.835..111N

Calcium-activated potassium channel subunit alpha-1 (2,299 words) [view diff] exact match in snippet view article find links to article

rare disease in humans caused by mutations in the gene. KCNMA1-linked channelopathy can cause neurological conditions like seizures and movement disorders

Congenital distal spinal muscular atrophy (937 words) [view diff] exact match in snippet view article find links to article

Dai J, Cho TJ, Unger S, et al. (July 2010). "TRPV4-pathy, a novel channelopathy affecting diverse systems". J. Hum. Genet. 55 (7): 400–2. doi:10.1038/jhg

Hereditary stomatocytosis (1,229 words) [view diff] exact match in snippet view article find links to article

and biological features in PIEZO1-hereditary xerocytosis and Gardos channelopathy: a retrospective series of 126 patients". Haematologica. 104 (8): 1554–1564

SCN5A (2,996 words) [view diff] exact match in snippet view article find links to article

1007/s00395-009-0012-8. PMC 2722719. PMID 19255801. Beyder A, Farrugia G (2016). "Ion channelopathies in functional GI disorders". American Journal of Physiology. Gastrointestinal

KCNQ4 (1,158 words) [view diff] exact match in snippet view article find links to article

DL (2007). "Structural Insight into KCNQ (Kv7) Channel Assembly and Channelopathy". Neuron. 53 (5): 663–75. doi:10.1016/j.neuron.2007.02.010. PMC 3011230

SCN2A (1,266 words) [view diff] exact match in snippet view article find links to article

familial neonatal-infantile seizures: characterization of a new sodium channelopathy". Ann. Neurol. 55 (4): 550–7. doi:10.1002/ana.20029. PMID 15048894.

KCNA5 (1,460 words) [view diff] exact match in snippet view article find links to article

M, Sattiraju S, Ballew JD, Jahangir A, Terzic A (Jul 2006). "Kv1.5 channelopathy due to KCNA5 loss-of-function mutation causes human atrial fibrillation"

Nav1.9 (2,167 words) [view diff] exact match in snippet view article find links to article

(March 2017). "Familial gain-of-function Nav1.9 mutation in a painful channelopathy". Journal of Neurology, Neurosurgery, and Psychiatry. 88 (3): 233–240

TRPM3 (1,401 words) [view diff] exact match in snippet view article find links to article

PMC 7253177. PMID 32427099. Zhao S, Rohacs T (December 2021). "The newest TRP channelopathy: Gain of function TRPM3 mutations cause epilepsy and intellectual disability"

Sudden unexpected death in epilepsy (2,710 words) [view diff] exact match in snippet view article find links to article

Mechthild; McDonald, Thomas V.; Sampson, Barbara A. (April 2014). "Cardiac channelopathy testing in 274 ethnically diverse sudden unexplained deaths". Forensic

TRPV4 (1,472 words) [view diff] exact match in snippet view article find links to article

has been co-discovered by W. Liedtke et al. and R. Strotmann et al. Channelopathy mutations in the TRPV4 gene lead to skeletal dysplasias, premature osteoarthritis

PMM2 deficiency (902 words) [view diff] exact match in snippet view article find links to article

Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy". International Journal of Molecular Sciences. 19 (2): 619. doi:10.3390/ijms19020619

Mitochondrial disease (3,500 words) [view diff] exact match in snippet view article find links to article

Baseball who had to retire from active play at age 29 due to mitochondrial channelopathy. Charlie Gard, a British boy who had mitochondrial DNA depletion syndrome;

Arrhythmia (4,761 words) [view diff] exact match in snippet view article find links to article

Matthews GD, Huang CL (April 2012). "Sudden cardiac death and inherited channelopathy: the basic electrophysiology of the myocyte and myocardium in ion channel

Lori L. Isom (593 words) [view diff] exact match in snippet view article find links to article

Chen C, Goldman A, Eckhardt L, Bezzerides V, Parent J, Isom L (2018). "Channelopathy as a SUDEP Biomarker in Dravet Syndrome Patient-Derived Cardiac Myocytes"

Cardiology (9,064 words) [view diff] exact match in snippet view article find links to article

Matthews, G; Huang, CL (2012). "Sudden cardiac death and Inherited channelopathy: the basic electrophysiology of the myocyte and myocardium in ion channel

Nav1.8 (3,618 words) [view diff] exact match in snippet view article find links to article

M, Zwinger PJ, Black JA, Dib-Hajj SD, Waxman SG (February 2012). "A channelopathy contributes to cerebellar dysfunction in a model of multiple sclerosis"

Leducq Foundation (1,600 words) [view diff] exact match in snippet view article find links to article

(2019). "Towards Precision Medicine with Human iPSCs for Cardiac Channelopathies". Circulation Research. 125 (6): 653–658. doi:10.1161/CIRCRESAHA.119

Primidone (6,876 words) [view diff] exact match in snippet view article find links to article

PMC 5402713. PMID 28106668. Zhao S, Rohacs T (December 2021). "The newest TRP channelopathy: Gain of function TRPM3 mutations cause epilepsy and intellectual disability"

Pain (10,802 words) [view diff] exact match in snippet view article find links to article

S2CID 260317729. Raouf R, Quick K, Wood JN (November 2010). "Pain as a channelopathy". The Journal of Clinical Investigation. 120 (11): 3745–3752. doi:10

Clinical neurochemistry (2,611 words) [view diff] exact match in snippet view article find links to article

2005, pp. 1017–1021 Cox, JJ; Reimann, F; Nicholas, AK; et al.An SCN9A channelopathy causes congenital inability to experience pain. Nature, 2006, pp. 894–898

Chemotherapy-induced peripheral neuropathy (4,608 words) [view diff] exact match in snippet view article find links to article

deficits have been identified, independent of structural damage, e.g. ion channelopathy, impaired spike encoding in the central and peripheral nervous system

Sudomotor (5,691 words) [view diff] exact match in snippet view article find links to article

2014). "The clinical approach to small fibre neuropathy and painful channelopathy". Practical Neurology. 14 (6): 368–379. doi:10.1136/practneurol-2013-000758

List of OMIM disorder codes (18,877 words) [view diff] exact match in snippet view article find links to article

Inflammatory bowel disease 25; 612567; CRFB4 Insensitivity to pain, channelopathy-associated; 243000; SCN9A Insensitivity to pain, congenital, with anhidrosis;