Jervell and Lange-Nielsen syndrome
It was first described by Anton Jervell and Fred Lange-Nielsen in 1957. Jervell and Lange-Nielsen syndrome causes severe ... of cases of Jervell and Lange-Nielsen syndrome are caused by mutations in the KCNQ1 gene, leading to Jervell and Lange-Nielsen ... Jervell and Lange-Nielsen syndrome (JLNS) is a rare type of long QT syndrome associated with severe, bilateral sensorineural ... The risk of arrhythmias is higher for those with Jervell and Lange-Nielsen syndrome than other forms of long QT syndrome. ...
Shaikh Zayed Medical College and Hospital
Zaman, Shahroona Masud; Ikram, M. Hamayun; Shakeel, Ali; Anwer, Ammar (10 December 2011). "JERVELL AND LANGE-NIELSEN SYNDROME ...
KvLQT1
Tranebjaerg L, Bathen J, Tyson J, Bitner-Glindzicz M (2000). "Jervell and Lange-Nielsen syndrome: a Norwegian perspective". Am ... Short QT syndrome, and Familial Atrial Fibrillation. KvLQT1 are also expressed in the pancreas, and KvLQT1 Long QT syndrome ... Mutations in the gene can lead to a defective protein and several forms of inherited arrhythmias as Long QT syndrome which is a ... Mutations in either the alpha subunit of this complex, KvLQT1 or the beta subunit, KCNE1, can lead to Long QT Syndrome or other ...
KCNE1
In addition, Jervell and Lange-Nielsen syndrome also involves bilateral sensorineural deafness. Mutation D76N in the KCNE1 ... and Jervell Lange-Nielsens syndrome (homozygotes). Both these syndromes are characterized by Long QT syndrome, a delay in ... Jervell and Lange-Nielsen syndrome Voltage-gated potassium channel KCNE2 KCNE3 KCNQ1 GRCh38: Ensembl release 89: ... "KCNE1 mutations cause jervell and Lange-Nielsen syndrome". Nature Genetics. 17 (3): 267-8. doi:10.1038/ng1197-267. PMID 9354783 ...
Andersen-Tawil syndrome
Jervell and Lange-Nielsen syndrome in which a prolonged QT interval is combined with congenital deafness; and Timothy syndrome ... Andersen-Tawil syndrome, also called Andersen syndrome and long QT syndrome 7, is a rare genetic disorder affecting several ... The differential diagnosis for a prolonged QT interval includes other forms of long QT syndrome such as Romano-Ward syndrome in ... leading to the periodic paralysis and abnormal heart rhythms characteristic of Andersen-Tawil syndrome. Andersen-Tawil syndrome ...
Bioelectricity
A model of Jervell and Lange-Nielsen syndrome". Otology & Neurotology. 26 (3): 415-24. doi:10.1097/01.mao.0000169764.00798.84. ... "Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias". The EMBO ... "Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: One clinical entity?". BMC Medical Genetics. 17 (1): 42. doi:10.1186/ ... Hoptak-Solga, A. D; Nielsen, S; Jain, I; Thummel, R; Hyde, D. R; Iovine, M. K (2008). "Connexin43 (GJA1) is required in the ...
Long QT syndrome
Jervell and Lange-Nielsen syndrome (JLNS) is a rare form of LQTS inherited in an autosomal recessive manner. In addition to ... A less commonly seen form is Jervell and Lange-Nielsen syndrome, an autosomal recessive form of LQTS combining a prolonged QT ... Some rare forms of long QT syndrome affect other parts of the body, leading to deafness in the Jervell and Lange-Nielsen form ... but is likely the first described case of Jervell and Lange-Nielsen syndrome. In 1957, the first case documented by ECG was ...
Fred Lange-Nielsen
Lange-Nielsen and Anton Jervell were the first to describe Jervell and Lange-Nielsen syndrome (JLNS) in 1953. He played in ... Jervell A, Lange-Nielsen F. Congenital deaf-mutism, functional heart disease with prolongation of the QT interval and sudden ... Fred Lange-Nielsen (28 September 1919 - 28 December 1989) was a Norwegian doctor and jazz musician (bass, vocals), known in the ...
Romano-Ward syndrome
Long QT syndrome Jervell and Lange-Nielsen syndrome Andersen-Tawil syndrome Timothy syndrome Tester DJ, Schwartz PJ, Ackerman ... While other forms of long QT syndrome are associated with deafness (Jervell and Lange-Nielsen syndrome), intermittent weakness ... The same variants in KCNE1 can cause the more severe Jervell and Lange-Nielsen syndrome when two copies are inherited ( ... the more severe Jervell and Lange-Nielsen syndrome is found, associated with more marked QT prolongation, congenital ...
QT interval
The autosomal recessive syndrome of Jervell and Lange-Nielsen is characterized by a prolonged QTc interval in conjunction with ... Electrocardiogram Long QT syndrome Short QT syndrome QT interval variability Panicker GK, Salvi V, Karnad DR, Chakraborty S, ... Abnormalities in the QT interval can be caused by genetic conditions such as long QT syndrome, by certain medications such as ... An abnormally prolonged QT interval could be due to long QT syndrome, whereas an abnormally shortened QT interval could be due ...
Cardiac Risk in the Young
Jervell and Lange-Nielsen syndrome & Romano-Ward syndrome), Brugada, Lev-Lenegre's syndrome) Wolff-Parkinson-White syndrome ( ... including sudden arrhythmic death syndrome (SADS, SDS). CRY was established in May 1995 by Alison Cox MBE and is based in the ... WPW) Coronary artery anomaly (CAAs) Marfan syndrome Other cardiac conditions - Endocardial fibroelastosis (EFE), Tachycardia, ...
Chromosome 21
Inflammatory bowel disease Intellectual developmental disorder Jervell and Lange-Nielsen syndrome Keppen-Lubinsky syndrome ... syndrome Basal ganglia calcification Bethlem myopathy Closed angle glaucoma Cataract Down syndrome Erondu-Cymet syndrome ... In some cases, the signs and symptoms are similar to those of Down syndrome. Changes to chromosome 21 include a missing segment ... Most people have two copies of chromosome 21, while those with three copies of chromosome 21 have Down syndrome, also called " ...
List of MeSH codes (C14)
... long QT syndrome MeSH C14.280.067.565.070 - Andersen syndrome MeSH C14.280.067.565.440 - Jervell and Lange-Nielsen syndrome ... Behcet syndrome MeSH C14.907.940.110 - Churg-Strauss syndrome MeSH C14.907.940.560 - mucocutaneous lymph node syndrome MeSH ... CREST syndrome MeSH C14.907.790.100 - anterior spinal artery syndrome MeSH C14.907.790.550 - spinal cord ischemia MeSH C14.907. ... leopard syndrome MeSH C14.240.400.701 - levocardia MeSH C14.240.400.725 - Marfan syndrome MeSH C14.240.400.849 - tetralogy of ...
List of syndromes
Janz syndrome Jeavons syndrome Jervell and Lange-Nielsen syndrome Johanson-Blizzard syndrome Johnson-McMillin syndrome Johnson- ... syndrome Wende-Bauckus syndrome Werner syndrome Wernicke-Korsakoff syndrome West syndrome Westerhof syndrome Wet lung syndrome ... syndrome Shone's syndrome Short anagen syndrome Short bowel syndrome short limb syndrome Short man syndrome Short QT syndrome ... syndrome Radial tunnel syndrome Rage syndrome Raghib syndrome Raine syndrome Ramos-Arroyo syndrome Ramsay Hunt syndrome type 1 ...
List of circulatory system conditions
Heart block Inappropriate sinus tachycardia Jervell and Lange-Nielsen syndrome Junctional escape beat Junctional rhythm Left ... Long QT syndrome Lown-Ganong-Levine syndrome Multifocal atrial tachycardia Wolff-Parkinson-White syndrome See also Category: ... Andersen syndrome, Long QT syndrome 7; Periodic paralysis, potassium-sensitive cardiodysrhythmic type) Ashman phenomenon ( ... "Phenotypic characterization of a large European family with Brugada syndrome displaying a sudden unexpected death syndrome ...
Chromosome 11
106100 Jacobsen syndrome Jervell and Lange-Nielsen syndrome Mantle cell lymphoma (t11;14) Meckel syndrome methemoglobinemia, ... syndrome Romano-Ward syndrome Sickle cell anemia Smith-Lemli-Opitz syndrome tetrahydrobiopterin deficiency Usher syndrome WAGR ... syndrome Wiedemann-Steiner syndrome Wilms' tumor G-banding ideograms of human chromosome 11 Tom Strachan; Andrew Read (2 April ... encoding protein Down syndrome cell adhesion molecule like 1 EI24: Etoposide-induced protein 2.4 homolog FAM118B: encoding ...
List of OMIM disorder codes
CNNM4 Jensen syndrome; 311150; TIMM8A Jervell and Lange-Nielsen syndrome 2; 612347; KCNE1 Jervell and Lange-Nielsen syndrome; ... PIKFYVE Cornelia de Lange syndrome 1; 122470; NIPBL Cornelia de Lange syndrome 2; 300590; DXS423E Cornelia de Lange syndrome 3 ... AKAP9 Long QT syndrome-3; 603830; SCN5A Long QT syndrome-4; 600919; ANK2 Long QT syndrome-7; 170390; KCNJ2 Long QT syndrome-9; ... TGFBR2 Long QT syndrome 12; 612955; SNT1 Long QT syndrome 13; 613485; KCNJ5 Long QT syndrome-1; 192500; KCNQ1 Long QT syndrome- ...
List of diseases (J)
... syndrome Jequier-Kozlowski skeletal dysplasia Jervell and Lange-Nielsen syndrome Jeune syndrome situs inversus Jeune syndrome ... syndrome Jacobsen syndrome Jadassohn-Lewandowsky syndrome Jaffer-Beighton syndrome Jalili syndrome Jancar syndrome Jankovic- ... Schelley syndrome Jones-Hersh-Yusk syndrome Jones syndrome Jorgenson-Lenz syndrome Joseph disease Joubert syndrome bilateral ... chorioretinal coloboma Joubert syndrome Juberg-Hayward syndrome Juberg-Marsidi syndrome Judge-Misch-Wright syndrome Jumping ...