Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 caucasian families
about
Factor VII deficiency and developmental abnormalities in a patient with partial monosomy of 13q and trisomy of 16p: case report and review of the literature.Channelopathies of skeletal muscle excitabilityThe Genotype and Clinical Phenotype of Korean Patients with Familial Hypokalemic Periodic ParalysisEpidemiologic analysis of prenatal exposure to cough medicines containing dextromethorphan: no evidence of human teratogenicity.Segmentation anomalies of vertebrae and ribs with other abnormalities of blastogenesis: syndromes or associations?The role of CACNA1S in predisposition to malignant hyperthermiaA Korean family of hypokalemic periodic paralysis with mutation in a voltage-gated calcium channel (R1239G)Neuromuscular disease and calcium channels.Investigation of muscle disease.Heterotaxia as an outcome of maternal diabetes: an epidemiological study.Skeletal muscle sodium current is reduced in hypokalemic periodic paralysisGenetic disorders of neuromuscular ion channels.Ivemark syndrome with agenesis of the corpus callosum: a case report with a review of the literature.Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a Chinese family.Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current.A sodium channel knockin mutant (NaV1.4-R669H) mouse model of hypokalemic periodic paralysis.A rare case of unilateral adrenal hyperplasia accompanied by hypokalaemic periodic paralysis caused by a novel dominant mutation in CACNA1S: features and prognosis after adrenalectomy.A calcium channel mutant mouse model of hypokalemic periodic paralysisMolecular basis of inherited calcium channelopathies: role of mutations in pore-forming subunits.Genetic neurological channelopathies.Hypokalemic periodic paralysis: a model for a clinical and research approach to a rare disorder.Beneficial effects of bumetanide in a CaV1.1-R528H mouse model of hypokalaemic periodic paralysis.From cytoskeletal dynamics to organ asymmetry: a nonlinear, regulative pathway underlies left-right patterning.Electrophysiological properties of the hypokalaemic periodic paralysis mutation (R528H) of the skeletal muscle alpha 1s subunit as expressed in mouse L cells.Calcium channels in neurological disease.Severe limb deficiencies, vertebral hypersegmentation, and mirror polydactyly: two additional cases that expand the phenotype to a more generalized effect on blastogenesis.Muscle weakness in a Japanese family of Arg1239His mutation hypokalemic periodic paralysis.Anal atresia, vertebral, genital, and urinary tract anomalies: a primary polytopic developmental field defect identified through an epidemiological analysis of associations.Epidemiological analysis of outcomes of pregnancy in gestational diabetic mothers.Mutation analysis of two patients with hypokalemic periodic paralysis and suspected malignant hyperthermia.Body stalk defects, body wall defects, amniotic bands with and without body wall defects, and gastroschisis: comparative epidemiology.Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a South American family.A novel mutation in CACNA1S gene associated with hypokalemic periodic paralysis which has a gender difference in the penetrance.Effects of mutations causing hypokalaemic periodic paralysis on the skeletal muscle L-type Ca2+ channel expressed in Xenopus laevis oocytes.Establishing the Embryonic Axes: Prime Time for Teratogenic Insults.Identification of mutations in the CACNL1A3 gene in 13 families of Scandinavian origin having hypokalemic periodic paralysis and evidence of a founder effect in Danish families.Corticosteroids during pregnancy and oral clefts: a case-control study.Description of the characteristics of cases with noncontiguous neural tube defects identified in a series of consecutive births.Malformations of cortical development in patients with midline facial defects and ocular hypertelorism.Exstrophy of the cloaca and exstrophy of the bladder: two different expressions of a primary developmental field defect.
P2860
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P2860
Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 caucasian families
description
1995 nî lūn-bûn
@nan
1995 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
Hypokalemic periodic paralysis ...... ffect in 16 caucasian families
@ast
Hypokalemic periodic paralysis ...... ffect in 16 caucasian families
@en
Hypokalemic periodic paralysis ...... ffect in 16 caucasian families
@nl
type
label
Hypokalemic periodic paralysis ...... ffect in 16 caucasian families
@ast
Hypokalemic periodic paralysis ...... ffect in 16 caucasian families
@en
Hypokalemic periodic paralysis ...... ffect in 16 caucasian families
@nl
prefLabel
Hypokalemic periodic paralysis ...... ffect in 16 caucasian families
@ast
Hypokalemic periodic paralysis ...... ffect in 16 caucasian families
@en
Hypokalemic periodic paralysis ...... ffect in 16 caucasian families
@nl
P2093
P2860
P356
P1476
Hypokalemic periodic paralysis ...... ffect in 16 caucasian families
@en
P2093
J Vale-Santos
K Jurkat-Rott
R A Ophoff
P2860
P304
P356
10.1002/AJMG.1320560406
P407
P577
1995-02-01T00:00:00Z