|
Episodic ataxia type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1.
|
18926884 |
2008 |
|
Episodic ataxia type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We excluded linkage to 11 regions containing genes associated with chorea and myokymia: 1) the Huntington disease gene on chromosome 4p; 2) the paroxysmal dystonic choreoathetosis gene at 2q34; 3) the dentatorubral-pallidoluysian atrophy gene at 12p13; 4) the choreoathetosis/spasticity disease locus on 1p that lies in a region containing a cluster of potassium (K+) channel genes; 5) the episodic ataxia type 1 (EA1) locus on 12p that contains the KCNA1 gene and two other voltage-gated K+ channel genes, KCNA5 and KCNA6; 6) the chorea-acanthocytosis locus on 9q21; 7) the Huntington-like syndrome on 20p; 8) the paroxysmal kinesigenic dyskinesia locus on 16p11.2-q11.2; 9) the benign hereditary chorea locus on 14q; 10) the SCA type 5 locus on chromosome 11; and 11) the chromosome 19 region that contains several ion channels and the CACNA1A gene, a brain-specific P/Q-type calcium channel gene associated with ataxia and hemiplegic migraine.
|
11310626 |
2001 |
|
Episodic ataxia type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the KCNA1 gene associated with episodic ataxia type-1 syndrome impair heteromeric voltage-gated K(+) channel function.
|
10428758 |
1999 |
|
Episodic ataxia type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Episodic ataxia type 1 (EA1) is an autosomal dominant channelopathy caused by mutations in KCNA1, which encodes the voltage-gated potassium channel, Kv1.1.
|
27271339 |
2016 |
|
Episodic ataxia type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
An increasing number of epileptic syndromes belongs to this group of rare disorders: Autosomal dominant nocturnal frontal lobe epilepsy is caused by mutations in a neuronal nicotinic acetylcholine receptor (affected genes: CHRNA4, CHRNB2), benign familial neonatal convulsions by mutations in potassium channels constituting the M-current (KCNQ2, KCNQ3), generalized epilepsy with febrile seizures plus by mutations in subunits of the voltage-gated sodium channel or the GABA(A) receptor (SCN1B, SCN1A, GABRG2), and episodic ataxia type 1-which is associated with epilepsy in a few patients--by mutations within another voltage-gated potassium channel (KCNA1).
|
11579435 |
2001 |
|
Episodic ataxia type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The gene, distinct from the KCNA1 responsible for episodic ataxia type 1, has been mapped on chromosome 19p13 in a 11-12 cM region.
|
9183251 |
1997 |
|
Episodic ataxia type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Episodic ataxia type 1 (EA-1) is caused by missense mutations in the potassium channel gene KCNA1, whereas episodic ataxia type 2 (EA-2) is caused by missense and nonsense mutations in the calcium channel gene CACNA1A.
|
11960817 |
2002 |
|
Episodic ataxia type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Episodic ataxia type 1 (EA1) is an autosomal-dominant neurological disease caused by point mutations in the potassium channel-encoding gene KCNA1.
|
17912752 |
2008 |
|
Episodic ataxia type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We have identified a novel heterozygous mutation in the KCNA1 gene of a young proband displaying typical signs and symptoms of Episodic Ataxia type 1 (EA1).
|
28676720 |
2017 |
|
Episodic ataxia type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Episodic ataxia type 1 without episodic ataxia: the diagnostic utility of nerve excitability studies in individuals with KCNA1 mutations.
|
23909822 |
2013 |
|
Episodic ataxia type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Numerous missense mutations have been described previously in KCNA1 that cause EA1.
|
15532032 |
2004 |
|
Episodic ataxia type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Animal models for EA1 include Kcna1-deficient mice, which recessively display severe seizures and die prematurely, and V408A-knock-in mice, which dominantly exhibit stress-induced loss of motor coordination.
|
22206926 |
2012 |
|
Episodic ataxia type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
PKC has similarities to episodic ataxia type 1 which is caused by mutations of the KCNA1 gene.
|
11346027 |
2001 |
|
Episodic ataxia type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These results broaden the range of KCNA1 mutations and reveal an unexpectedly large contribution of nongenetic factors to phenotypic variability in EA1.
|
20660867 |
2010 |
|
Episodic ataxia type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Novel mutations in KCNA1 and CACNA1A genes are associated with episodic ataxia type 1 and type 2, respectively.
|
24275721 |
2014 |
|
Episodic ataxia type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Taken together, we provide genetic and functional evidence that mutation p.Arg324Thr in the KCNA1 gene is pathogenic and results in episodic ataxia type 1 through a dominant-negative effect.
|
27477325 |
2016 |
|
Episodic ataxia type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous mutations in KCNA1 cause episodic ataxia type 1 (EA1), an ion channel disorder characterised by brief paroxysms of cerebellar dysfunction and persistent neuromyotonia.
|
23349320 |
2013 |
|
Episodic ataxia type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic variants in the KCNA1 gene, which encodes the voltage-gated potassium channel Kv1.1, are responsible for Episodic Ataxia Type 1 (EA1).
|
30055040 |
2018 |
|
Episodic ataxia type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
EA-1 is due to different heterozygous missense point mutations in a voltage-gated (delayed rectifier) potassium channel gene (KCNA1/Kv1.1) on chromosome 12p13, whereas EA-2 is caused by mutations of the cerebral P/Q-type calcium channel alpha 1 subunit gene CACNL1A4 localized on chromosome 19p, which is highly expressed in the cerebellum.
|
9390841 |
1998 |
|
Episodic ataxia type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Herein, we critically evaluate the molecular and biophysical characteristics of the KV1.1 protein in comparison with others and discuss their role in the greater penetrance of KCNA1 mutations in humans leading to the neurological signs of episodic ataxia type 1 (EA1).
|
26825872 |
2016 |
|
Episodic ataxia type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the gene KCNA1 that encodes the voltage-gated potassium channel Kv1.1 are responsible for EA1.
|
21307345 |
2011 |
|
Episodic ataxia type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous mutations of KCNA1, the gene encoding potassium channel Kv1.1 subunits, cause episodic ataxia type 1 (EA1), which is characterized by paroxysmal cerebellar incoordination and interictal myokymia.
|
19779067 |
2010 |
|
Episodic ataxia type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Episodic ataxia type 1
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Episodic ataxia type 1
|
1.000 |
Biomarker
|
disease |
CTD_human |
|
|
|