Episodic ataxia type 1: clinical characterization, quality of life and genotype-phenotype correlation.
about
Genetic neurological channelopathies: molecular genetics and clinical phenotypes.New insights into the pathogenesis and therapeutics of episodic ataxia type 1Whole-exome sequencing as a diagnostic tool in a family with episodic ataxia type 1.Episodic Ataxias: Clinical and Genetic FeaturesSeizures and Epilepsies due to Channelopathies and Neurotransmitter Receptor Dysfunction: A Parallel between Genetic and Immune AspectsMutations underlying Episodic Ataxia type-1 antagonize Kv1.1 RNA editingGenetic causes of hypomagnesemia, a clinical overviewA channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxiaThe episodic ataxia type 1 mutation I262T alters voltage-dependent gating and disrupts protein biosynthesis of human Kv1.1 potassium channels.Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentationsRare neurological channelopathies--networks to study patients, pathogenesis and treatment.Familial Paroxysmal Kinesigenic Dyskinesia is associated with mutations in the KCNA1 gene.A novel KCNA1 mutation in a family with episodic ataxia and malignant hyperthermia.Dominant-negative mutation p.Arg324Thr in KCNA1 impairs Kv1.1 channel function in episodic ataxia.
P2860
Q26777559-59DD98AF-C557-43CF-A843-5961B7999BE9Q26782897-AE08B4CF-1FFC-4556-BFB6-C204FB080F30Q27308868-A512113F-6BEC-49E2-A0A8-E807CE3E5082Q28079565-9E7F8BDA-ED9C-44A4-818C-35ADFBE3BDCFQ28079865-F84F61B2-B4CE-464D-90CE-341020D3D34DQ30839225-0FE8E09E-D2E6-4ABD-B41C-E0944CA1843BQ33715342-30E0F86F-F71E-4784-B083-9A731C5C34B0Q33870521-D3EE55FF-C52D-4F15-8BF2-131E1C42EBE3Q36500042-410D4664-018D-44CD-BC67-40C4E72B0980Q37013909-A3B6538D-D904-48D2-B8BD-282437E68723Q38760864-FB4DD8D4-183A-48D7-8783-CBD90987B404Q47238308-6956A057-4D12-4C1D-B31B-B24CDD202908Q47422985-36AFD787-7896-4765-BDFA-ACACFCE1620BQ51603610-85A17B89-DF63-4DE4-A0CA-2ADEB20ED113
P2860
Episodic ataxia type 1: clinical characterization, quality of life and genotype-phenotype correlation.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 26 February 2014
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Episodic ataxia type 1: clinic ...... enotype-phenotype correlation.
@en
Episodic ataxia type 1: clinic ...... enotype-phenotype correlation.
@nl
type
label
Episodic ataxia type 1: clinic ...... enotype-phenotype correlation.
@en
Episodic ataxia type 1: clinic ...... enotype-phenotype correlation.
@nl
prefLabel
Episodic ataxia type 1: clinic ...... enotype-phenotype correlation.
@en
Episodic ataxia type 1: clinic ...... enotype-phenotype correlation.
@nl
P2093
P2860
P356
P1433
P1476
Episodic ataxia type 1: clinic ...... enotype-phenotype correlation.
@en
P2093
Angelika F Hahn
Brian N Bundy
CINCH Investigators
Joanna C Jen
Michael G Hanna
Mohammed K Salajegheh
Richard Barohn
Robert C Griggs
Robert W Baloh
Tracey D Graves
P2860
P304
P356
10.1093/BRAIN/AWU012
P407
P577
2014-02-26T00:00:00Z