Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations
about
Cataplexy and Its Mimics: Clinical Recognition and Management.De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.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
Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 22 September 2015
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Clinical heterogeneity associa ...... xy and nonataxic presentations
@en
Clinical heterogeneity associa ...... y and nonataxic presentations.
@nl
type
label
Clinical heterogeneity associa ...... xy and nonataxic presentations
@en
Clinical heterogeneity associa ...... y and nonataxic presentations.
@nl
prefLabel
Clinical heterogeneity associa ...... xy and nonataxic presentations
@en
Clinical heterogeneity associa ...... y and nonataxic presentations.
@nl
P2093
P2860
P50
P1433
P1476
Clinical heterogeneity associa ...... xy and nonataxic presentations
@en
P2093
David K Urion
Jonathan Picker
Lance Rodan
Meghan C Towne
Pankaj B Agrawal
Paul A Rosenberg
Renee Pelletier
Wen-Hann Tan
P2860
P2888
P356
10.1007/S10048-015-0460-2
P577
2015-09-22T00:00:00Z