Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13)
about
Functional analysis helps to define KCNC3 mutational spectrum in Dutch ataxia casesA KCNC3 mutation causes a neurodevelopmental, non-progressive SCA13 subtype associated with dominant negative effects and aberrant EGFR trafficking.Mutations in KCND3 cause spinocerebellar ataxia type 22.A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.De novo point mutations in patients diagnosed with ataxic cerebral palsy.Spinocerebellar ataxia type 13 mutation that is associated with disease onset in infancy disrupts axonal pathfinding during neuronal development.Comprehensive phenotype of the p.Arg420his allelic form of spinocerebellar ataxia type 13.Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias.The inherited ataxias: genetic heterogeneity, mutation databases, and future directions in research and clinical diagnostics.Kv3.3 potassium channels and spinocerebellar ataxia.Precision physiology and rescue of brain ion channel disorders.Rare neurological channelopathies--networks to study patients, pathogenesis and treatment.Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties.The genetic basis of cerebral palsy.What does phenotype have to do with it?Kv3.3 channels harbouring a mutation of spinocerebellar ataxia type 13 alter excitability and induce cell death in cultured cerebellar Purkinje cells.Kv3 Channels: Enablers of Rapid Firing, Neurotransmitter Release, and Neuronal Endurance.Altered Kv3.3 channel gating in early-onset spinocerebellar ataxia type 13.Brain expression of Kv3 subunits during development, adulthood and aging and in a murine model of Alzheimer's disease.In Vivo Analysis of Potassium Channelopathies: Loose Patch Recording of Purkinje Cell Firing in Living, Awake Zebrafish.Loss of Function of KCNC1 is associated with intellectual disability without seizures.Purkinje Cell Signaling Deficits in Animal Models of Ataxia.
P2860
Q24321986-065FC140-F971-47D6-870F-D2D2B59B402FQ33632254-CDAE416C-8DA8-4495-AE34-9042AFB1D46DQ33857030-86980D7F-6675-44B4-8AAD-2025F1617E2DQ34448160-98B108AF-75A7-42E4-9592-5B6C1F38C0D9Q36066674-EC5343C1-9FE2-4D10-AB31-D24EAD5BFE74Q36359266-AA4162B6-C90B-44BA-AEDB-C81FD15DB7B5Q37298549-79BE3CD4-5D52-426E-A6EF-387F958EAB56Q37619548-FB48AB17-430B-491E-9513-60A055380AAAQ38018008-97879051-74D1-461F-B290-329F7E09BD87Q38600699-DFD08049-CB74-45E2-A28D-582C3DA5721BQ38692505-EC5BBE29-FE5C-4570-9905-211003E212D9Q38760864-635D5F96-736C-433D-B460-DBE37603753CQ38852106-446DF48B-6C47-4EAA-B41A-13792C5002E0Q39064570-49BE56C5-B054-4163-B979-50A7AF276C5DQ42347974-BC0C90E8-95C3-4786-A0F8-C5B95F78921AQ42448516-1A05C01B-7E83-49F6-9807-BAE5BD53AC38Q47681198-E3C74DEF-0C61-4FB7-9FB4-20ED959B538FQ48656390-7B88E725-A40B-46BB-8106-C78907CD363DQ48902964-8861C392-12C5-4956-BA31-989DC76C23B4Q50067393-3192BB4D-C7BD-4D17-B232-F8FB220470CFQ51158767-80092BC6-07BC-46F9-B0C2-451E8CCE5336Q55097137-7A1CDC00-8935-4740-919F-566FFB71C292
P2860
Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13)
description
2011 nî lūn-bûn
@nan
2011 թուականին հրատարակուած գիտական յօդուած
@hyw
2011 թվականին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13)
@ast
Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13)
@en
Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13)
@en-gb
Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13)
@nl
type
label
Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13)
@ast
Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13)
@en
Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13)
@en-gb
Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13)
@nl
prefLabel
Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13)
@ast
Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13)
@en
Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13)
@en-gb
Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13)
@nl
P2093
P2860
P921
P1433
P1476
Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13)
@en
P2093
Christopher M Gomez
Diane M Papazian
Karla P Figueroa
Laura P W Ranum
Michael F Waters
Natali A Minassian
Stefan M Pulst
Thomas D Bird
Vartan Garibyan
P2860
P304
P356
10.1371/JOURNAL.PONE.0017811
P407
P577
2011-01-01T00:00:00Z